clinvar-querier

ClinVar database query skill for clinical variant interpretation and pathogenicity lookup

509 stars

bya5c-ai

View on GitHub Installation ↓

Best use case

clinvar-querier is best used when you need a repeatable AI agent workflow instead of a one-off prompt.

ClinVar database query skill for clinical variant interpretation and pathogenicity lookup

Teams using clinvar-querier 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/clinvar-querier/SKILL.md --create-dirs "https://raw.githubusercontent.com/a5c-ai/babysitter/main/library/specializations/domains/science/bioinformatics/skills/clinvar-querier/SKILL.md"

Manual Installation

Download SKILL.md from GitHub
Place it in .claude/skills/clinvar-querier/SKILL.md inside your project
Restart your AI agent — it will auto-discover the skill

How clinvar-querier Compares

Feature / Agent	clinvar-querier	Standard Approach
Platform Support	Not specified	Limited / Varies
Context Awareness	High	Baseline
Installation Complexity	Unknown	N/A

Frequently Asked Questions

What does this skill do?

ClinVar database query skill for clinical variant interpretation and pathogenicity lookup

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

# ClinVar Querier Skill

## Purpose
Enable ClinVar database queries for clinical variant interpretation and pathogenicity lookup.

## Capabilities
- Variant significance lookup
- Submission history retrieval
- Condition association queries
- Evidence level assessment
- Batch variant queries
- VCF annotation integration

## Usage Guidelines
- Query variants with standard nomenclature
- Review submission history for context
- Consider evidence levels in interpretation
- Batch query for efficiency
- Integrate with VCF annotation
- Document ClinVar version dates

## Dependencies
- ClinVar API
- VarSome API
- OMIM

## Process Integration
- Clinical Variant Interpretation (clinical-variant-interpretation)
- Rare Disease Diagnostic Pipeline (rare-disease-diagnostics)
- Tumor Molecular Profiling (tumor-molecular-profiling)

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