Files
rarelens/api/app/routers/cases.py
T
Kemal Yaylali 197975cc42 feat(ml): train a real model, and report the number that matters rather than the flattering one
"Variants are unscored" was accurate: nothing was ever trained, so a quarter of every rank was
dead weight and the UI leaked a connection error at the reader.

- scripts/make-training-set.sh derives a training table from ClinVar directly. ClinVar already
  carries the molecular consequence, the gene and an allele frequency, which is the feature set
  serving sends, so this avoids running VEP over hundreds of thousands of variants. 2-star
  records only.
- train.py now holds out whole genes (GroupShuffleSplit). docs/data.md had said to do this since
  the data pass; the code was still doing a random split, which is the leak Grimm 2015 describes.
- evaluate() reports missense on its own. On the last run: AUROC 0.986 over 74,239 held-out
  variants, but 0.872 over the 13,553 missense ones, and the docs say plainly why even that is
  flattered — within missense the only live feature is allele frequency, and ClinVar's benign
  calls often use allele frequency as evidence (ACMG BA1/BS1), so the feature partly caused the
  label.
- the 503 now names what is missing (model@alias via tracking URI) and leaves the exception in
  the server log instead of the UI.
- make training-set / make train; the 58 MB table is gitignored.

Verified end to end: model registered as v2, the simulated NF2 case scores 0.999 on the planted
variant, and it now ranks 1.00 with all four components live.

Tests: api 77, ml 22, loader 16, web 32; ruff, mypy, svelte-check clean.
2026-09-12 09:13:54 +01:00

240 lines
8.7 KiB
Python

import logging
import uuid
from dataclasses import asdict
from datetime import UTC, datetime
from fastapi import APIRouter, HTTPException, Query, status
from sqlalchemy import func, select
from sqlalchemy.exc import IntegrityError
from sqlalchemy.orm import selectinload
from app.config import settings
from app.db import SessionDep
from app.models import (
Case,
CasePhenotype,
DecisionState,
Job,
JobStatus,
Variant,
VariantDecision,
)
from app.schemas import (
CandidateOut,
CandidatePage,
CaseCreate,
CaseOut,
FunnelOut,
JobOut,
ProvenanceOut,
ReportOut,
ScoreOut,
)
from app.services import candidates as case_view
from app.services import events, triage
from app.services.scoring import score_job
logger = logging.getLogger(__name__)
router = APIRouter()
REPORT_TOP = 5
async def _case_or_404(session: SessionDep, case_id: uuid.UUID) -> Case:
case = await case_view.get_case(session, case_id)
if case is None:
raise HTTPException(404, "case not found")
return case
async def _shortlisted_counts(session: SessionDep, case_ids: list[uuid.UUID]) -> dict[uuid.UUID, int]:
if not case_ids:
return {}
rows = await session.execute(
select(Job.case_id, func.count(VariantDecision.id))
.join(Variant, Variant.job_id == Job.id)
.join(VariantDecision, VariantDecision.variant_id == Variant.id)
.where(Job.case_id.in_(case_ids), VariantDecision.state == DecisionState.shortlisted)
.group_by(Job.case_id)
)
return dict(rows.all()) # type: ignore[arg-type]
async def _latest_jobs(session: SessionDep, case_ids: list[uuid.UUID]) -> dict[uuid.UUID, Job]:
if not case_ids:
return {}
jobs = await session.scalars(
select(Job).where(Job.case_id.in_(case_ids)).order_by(Job.created_at.desc())
)
latest: dict[uuid.UUID, Job] = {}
for job in jobs: # ordered newest first, so the first one wins
latest.setdefault(job.case_id, job)
return latest
def _as_case_out(case: Case, job: Job | None, shortlisted: int) -> CaseOut:
out = CaseOut.model_validate(case)
out.latest_job = JobOut.model_validate(job) if job is not None else None
out.shortlisted = shortlisted
return out
@router.get("", response_model=list[CaseOut])
async def list_cases(session: SessionDep):
cases = (
await session.scalars(
select(Case).order_by(Case.created_at.desc()).options(selectinload(Case.phenotypes))
)
).all()
ids = [c.id for c in cases]
jobs, counts = await _latest_jobs(session, ids), await _shortlisted_counts(session, ids)
return [_as_case_out(c, jobs.get(c.id), counts.get(c.id, 0)) for c in cases]
@router.post("", response_model=CaseOut, status_code=status.HTTP_201_CREATED)
async def create_case(payload: CaseCreate, session: SessionDep):
case = Case(
name=payload.name,
vcf_uri=payload.vcf_uri,
assembly=payload.assembly,
phenotypes=[CasePhenotype(hpo_id=p.hpo_id, label=p.label) for p in payload.phenotypes],
)
session.add(case)
try:
await session.commit()
except IntegrityError: # cases.name is unique
await session.rollback()
raise HTTPException(409, f"a case named {payload.name!r} already exists") from None
await session.refresh(case, attribute_names=["phenotypes"])
return _as_case_out(case, None, 0)
@router.get("/{case_id}", response_model=CaseOut)
async def get_case(case_id: uuid.UUID, session: SessionDep):
case = await _case_or_404(session, case_id)
counts = await _shortlisted_counts(session, [case_id])
return _as_case_out(case, await case_view.latest_job(session, case_id), counts.get(case_id, 0))
@router.get("/{case_id}/jobs", response_model=list[JobOut])
async def list_jobs(case_id: uuid.UUID, session: SessionDep):
result = await session.scalars(
select(Job).where(Job.case_id == case_id).order_by(Job.created_at.desc())
)
return result.all()
@router.post("/{case_id}/annotate", response_model=JobOut, status_code=status.HTTP_202_ACCEPTED)
async def annotate(case_id: uuid.UUID, session: SessionDep):
case = await _case_or_404(session, case_id)
# Commit `running` before launching: a local run that dies instantly is marked failed by its
# watcher, and a later status write here would overwrite that.
job = Job(case_id=case.id, status=JobStatus.running)
session.add(job)
await session.commit()
try:
job.workflow_ref = await events.launch(job.id, case.vcf_uri, case.assembly)
except events.LaunchError as e:
job.status = JobStatus.failed
job.log = str(e)
job.finished_at = datetime.now(UTC)
await session.commit()
await session.refresh(job)
return job
@router.post("/{case_id}/score", response_model=ScoreOut)
async def score(case_id: uuid.UUID, session: SessionDep):
await _case_or_404(session, case_id)
job = await case_view.latest_job(session, case_id, status=JobStatus.succeeded)
if job is None:
raise HTTPException(409, "no finished annotation to score")
try:
scored, version = await score_job(job.id, session)
except Exception as e:
# No registry, no model behind the alias, a model that will not load: all of these are
# the environment being unready, not a bug in the request. Name what is missing and keep
# the exception in the log, where it is useful, rather than in the UI, where it is noise.
logger.exception("scoring case %s failed", case_id)
raise HTTPException(
503,
f"no model available: {settings.model_name}@{settings.model_alias} "
f"via {settings.mlflow_tracking_uri}",
) from e
return ScoreOut(case_id=case_id, scored=scored, model_version=version)
@router.get("/{case_id}/candidates", response_model=CandidatePage)
async def list_candidates(
case_id: uuid.UUID,
session: SessionDep,
gene: str | None = None,
impact: str | None = Query(None, pattern="^(HIGH|MODERATE|LOW|MODIFIER)$"),
max_af: float | None = Query(None, ge=0, le=1),
state: str | None = Query(None, pattern="^(shortlisted|dismissed|undecided)$"),
limit: int = Query(50, ge=1, le=500),
offset: int = Query(0, ge=0),
) -> CandidatePage:
case = await _case_or_404(session, case_id)
view = await case_view.build(session, case)
items = view.candidates
if gene:
items = [c for c in items if (c.variant.gene or "").upper() == gene.upper()]
if impact:
items = [c for c in items if c.variant.impact == impact]
if max_af is not None:
items = [c for c in items if c.variant.gnomad_af is None or c.variant.gnomad_af <= max_af]
if state == "undecided":
items = [c for c in items if c.variant.decision is None]
elif state is not None:
items = [c for c in items if c.variant.decision and c.variant.decision.state.value == state]
labels = view.labels
return CandidatePage(
# The funnel describes the whole case, not the filtered view.
funnel=FunnelOut(**asdict(view.funnel)),
weights=triage.WEIGHTS,
items=[CandidateOut.from_candidate(c, labels) for c in items[offset : offset + limit]],
total=len(items),
limit=limit,
offset=offset,
)
@router.get("/{case_id}/report", response_model=ReportOut)
async def report(case_id: uuid.UUID, session: SessionDep) -> ReportOut:
case = await _case_or_404(session, case_id)
view = await case_view.build(session, case)
labels = view.labels
def decided(state: DecisionState) -> list[CandidateOut]:
return [
CandidateOut.from_candidate(c, labels)
for c in view.candidates
if c.variant.decision is not None and c.variant.decision.state == state
]
shortlisted, dismissed = decided(DecisionState.shortlisted), decided(DecisionState.dismissed)
top = [
CandidateOut.from_candidate(c, labels)
for c in view.candidates
if c.variant.decision is None
][:REPORT_TOP]
prediction = next((c.variant.prediction for c in view.candidates if c.variant.prediction), None)
return ReportOut(
case=_as_case_out(case, view.job, len(shortlisted)),
funnel=FunnelOut(**asdict(view.funnel)),
generated_at=datetime.now(UTC),
provenance=ProvenanceOut(
job_id=view.job.id if view.job else None,
vep_version=view.job.vep_version if view.job else None,
finished_at=view.job.finished_at if view.job else None,
model_name=prediction.model_name if prediction else None,
model_version=prediction.model_version if prediction else None,
),
shortlisted=shortlisted,
dismissed=dismissed,
top=top,
)