vep-variant-annotator

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

509 stars

Best use case

vep-variant-annotator is best used when you need a repeatable AI agent workflow instead of a one-off prompt.

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

Teams using vep-variant-annotator should expect a more consistent output, faster repeated execution, less prompt rewriting.

When to use this skill

  • You want a reusable workflow that can be run more than once with consistent structure.

When not to use this skill

  • You only need a quick one-off answer and do not need a reusable workflow.
  • You cannot install or maintain the underlying files, dependencies, or repository context.

Installation

Claude Code / Cursor / Codex

$curl -o ~/.claude/skills/vep-variant-annotator/SKILL.md --create-dirs "https://raw.githubusercontent.com/a5c-ai/babysitter/main/library/specializations/domains/science/bioinformatics/skills/vep-variant-annotator/SKILL.md"

Manual Installation

  1. Download SKILL.md from GitHub
  2. Place it in .claude/skills/vep-variant-annotator/SKILL.md inside your project
  3. Restart your AI agent — it will auto-discover the skill

How vep-variant-annotator Compares

Feature / Agentvep-variant-annotatorStandard Approach
Platform SupportNot specifiedLimited / Varies
Context Awareness High Baseline
Installation ComplexityUnknownN/A

Frequently Asked Questions

What does this skill do?

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

Where can I find the source code?

You can find the source code on GitHub using the link provided at the top of the page.

SKILL.md Source

# VEP Variant Annotator Skill

## 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)

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