plobb

plobb / variant-triage

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API-first variant triage pipeline combining genomic filtering, annotation, and LLM-driven interpretation for clinical genomics workflows

ai-agent api bioinformatics clinical-genomics fastapi
15
2
100% credibility
Found Apr 28, 2026 at 15 stars -- GitGems finds repos before they trend. Get early access to the next one.
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AI Analysis
Python
AI Summary

A web service that classifies genetic variants from VCF files using clinical guidelines for germline and somatic origins, provides evidence summaries, and offers optional AI-generated interpretations using synthetic data.

How It Works

1
🧬 Discover the tool

You find a free online service that helps sort genetic changes from DNA tests into simple categories like harmful, uncertain, or harmless.

2
👤 Create your account

Sign up with your email and a password so your work stays private and secure.

3
Choose your type
👶
Inherited (germline)

For changes passed down in families.

🦠
Cancer-related (somatic)

For changes found in tumors.

4
📤 Upload your file

Paste the contents of your genetic data file, name your sample, and let the tool analyze it right away.

5
📊 Get your results

See a clear report for each change, with its category, score, and reasons why.

6
🤖 Add AI summary

Optionally get a helpful plain-English draft explanation for each result.

🎉 All done!

Your genetic changes are now organized, saved securely in your history, and ready for expert review.

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Star Growth

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AI-Generated Review

What is variant-triage?

variant-triage is a Python-based, API-first variant triage pipeline for clinical genomics workflows. Developers upload VCF files via REST endpoints to get automated ACMG germline classifications, AMP somatic tiering, genomic filtering, annotation from sources like gnomAD and ClinVar, plus LLM-driven interpretation drafts using Claude. It turns messy variant calling outputs into structured, auditable results stored in PostgreSQL, deployable via Docker to Fly.io with a live Swagger demo at variant-triage.fly.dev.

Why is it gaining traction?

Its end-to-end API-first design on GitHub bridges bioinformatics pipelines and production services, combining filtering, annotation, and interpretation in one reproducible system with JWT auth, audit logs, and LLM guardrails to block unsafe outputs. Unlike script-heavy tools, it offers deterministic rules, 170+ tests, and graceful degradation if external APIs fail, making it instantly testable and extensible for custom rules.

Who should use this?

Bioinformaticians prototyping clinical variant workflows, genomic researchers needing quick ACMG/AMP triage on synthetic data, or teams building API-first services for germline/somatic analysis. Ideal for devs evaluating LLM integration in regulated domains without starting from scratch.

Verdict

Solid portfolio demo with excellent docs, tests, and a running API—worth forking to productionize your genomics pipeline. Low 1.0% credibility score and 15 stars signal early maturity, so validate classifications manually before real use.

(198 words)

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