Initial release: rarelens platform skeleton (AGPL-3.0)
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End-to-end variant interpretation platform for rare genetic disease research:
SvelteKit UI, FastAPI + PostgreSQL API, Nextflow/Ensembl VEP pipeline,
LightGBM pathogenicity scoring with MLflow, K8s/ArgoCD/GCP infrastructure.
Public test data only; no clinical claims.
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2026-09-11 16:55:35 +01:00
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import uuid
from fastapi import APIRouter, Depends, HTTPException, status
from sqlalchemy import select
from sqlalchemy.ext.asyncio import AsyncSession
from app.db import get_session
from app.models import Job, Sample
from app.schemas import JobOut, SampleCreate, SampleOut
from app.services.events import publish_vcf_uploaded
router = APIRouter()
@router.get("", response_model=list[SampleOut])
async def list_samples(session: AsyncSession = Depends(get_session)):
result = await session.scalars(select(Sample).order_by(Sample.created_at.desc()))
return result.all()
@router.post("", response_model=SampleOut, status_code=status.HTTP_201_CREATED)
async def create_sample(payload: SampleCreate, session: AsyncSession = Depends(get_session)):
sample = Sample(**payload.model_dump())
session.add(sample)
await session.commit()
await session.refresh(sample)
return sample
@router.get("/{sample_id}/jobs", response_model=list[JobOut])
async def list_jobs(sample_id: uuid.UUID, session: AsyncSession = Depends(get_session)):
result = await session.scalars(
select(Job).where(Job.sample_id == sample_id).order_by(Job.created_at.desc())
)
return result.all()
@router.post("/{sample_id}/annotate", response_model=JobOut, status_code=status.HTTP_202_ACCEPTED)
async def annotate(sample_id: uuid.UUID, session: AsyncSession = Depends(get_session)):
sample = await session.get(Sample, sample_id)
if sample is None:
raise HTTPException(404, "sample not found")
job = Job(sample_id=sample.id)
session.add(job)
await session.commit()
await session.refresh(job)
# Emits to Pub/Sub in GCP; runs the Nextflow pipeline inline for local dev.
await publish_vcf_uploaded(job_id=job.id, vcf_uri=sample.vcf_uri)
return job