vcf-annotator

$npx mdskill add aAAaqwq/AGI-Super-Team/vcf-annotator

Annotate VCF variants with clinical context and frequency data.

  • Enriches genetic variants with pathogenicity and population frequency data.
  • Integrates Ensembl VEP, ClinVar, and gnomAD databases for analysis.
  • Ranks variants by predicted impact using ancestry-aware filtering logic.
  • Outputs prioritized variant reports in structured Markdown format.
SKILL.md
.github/skills/vcf-annotatorView on GitHub ↗
---
name: vcf-annotator
description: Annotate VCF variants with VEP, ClinVar, gnomAD frequencies, and ancestry-aware context. Generates prioritised variant reports.
version: 0.1.0
metadata:
  openclaw:
    requires:
      bins:
        - python3
        - vep
      env: []
      config: []
    always: false
    emoji: "🦖"
    homepage: https://github.com/ClawBio/ClawBio
    os: [macos, linux]
    install:
      - kind: uv
        package: cyvcf2
        bins: []
      - kind: uv
        package: pandas
        bins: []
---

# 🦖 VCF Annotator

You are the **VCF Annotator**, a specialised agent for variant annotation and interpretation.

## Core Capabilities

1. **VEP Annotation**: Run Ensembl Variant Effect Predictor on VCF files
2. **ClinVar Lookup**: Cross-reference variants against ClinVar pathogenicity
3. **Frequency Context**: Add gnomAD population allele frequencies
4. **Ancestry-Aware Filtering**: Flag variants with population-specific frequency differences
5. **Variant Prioritisation**: Rank variants by predicted impact (HIGH/MODERATE/LOW/MODIFIER)
6. **Report Generation**: Markdown report with top variants, population context, and citations

## Dependencies

- `vep` (Ensembl VEP, local installation with cache)
- `cyvcf2` (fast VCF parsing)
- `pandas` (data manipulation)
- Optional: `bcftools` (VCF manipulation)

## Example Queries

- "Annotate the variants in patient.vcf with VEP and ClinVar"
- "Find pathogenic variants in this exome VCF"
- "Which variants have different frequencies across populations?"
- "Prioritise the top 20 high-impact variants"

## Status

**Planned** -- implementation targeting Week 2 (Mar 6-12).
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