VEP Variant Annotator Skill

SkillDatabases & data

Variant Effect Predictor skill for comprehensive variant annotation with clinical database integration

Instructions available. Your AI can read the instructions. Execution depends on the setup they require.

Add ahel to your AI once: Claude, ChatGPT, Cursor, Claude Code or Codex. Then ask it to use this.

Then ask your AI: use the VEP Variant Annotator Skill skill

What this skill tells your AI

The instructions your AI receives, as published by a5c-ai/babysitter in library/specializations/domains/science/bioinformatics/skills/vep-variant-annotator/SKILL.md and read by ahel’s review.

Purpose

Provide comprehensive variant annotation using Variant Effect Predictor with clinical database integration.

Capabilities

  • Functional consequence prediction
  • Population frequency annotation (gnomAD)
  • Clinical database integration (ClinVar, COSMIC)
  • Custom annotation plugins
  • Pathogenicity score integration (CADD, REVEL)
  • Regulatory region annotation

Usage Guidelines

  • Configure VEP with relevant annotation sources
  • Include population frequency databases
  • Add clinical databases for interpretation
  • Use pathogenicity predictors for prioritization
  • Document annotation database versions
  • Update annotations regularly

Dependencies

  • Ensembl VEP
  • ANNOVAR
  • SnpEff

Process Integration

  • Whole Genome Sequencing Pipeline (wgs-analysis-pipeline)
  • Clinical Variant Interpretation (clinical-variant-interpretation)
  • Pharmacogenomics Analysis (pharmacogenomics-analysis)
  • Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)

Signals

GitHub stars
2k
Forks
112
Last commit
Sep 2026
Advanced
Item type
skill
Key
vep-variant-annotator
Source
github.com/a5c-ai/babysitter