Skill Store 33

Vcf Annotator

Annotate VCF variants with VEP, ClinVar, gnomAD frequencies, and ancestry-aware context.

by aaaaqwq · MIT

The skill

Annotate VCF variants with VEP, ClinVar, gnomAD frequencies, and ancestry-aware context. Generates prioritised variant reports.

🦖 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).

Use this skill

Connect your agent to the Skill Store MCP server and ask for it by ref: aaaaqwq/vcf-annotator-6387537259.

Download SKILL.md · Markdown version

Details

Publisher
aaaaqwq
Category
Health & Life Sciences › Bioinformatics & genomics
License
MIT
Updated
2026-10-14

References

More from aaaaqwq