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clinvar-database

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

  • Skills
  • Scientific
  • 14

What it does and how to use it

A skill that teaches Claude Code to do scientific tasks well. It is packaged knowledge the model uses whenever it is relevant.

  1. Install the skill (command above).
  2. In Claude Code, describe what you need - the skill turns on by itself when the context fits.
  3. No commands to memorize: you talk in plain language and the skill does the rest.

Install (Claude Code)

mkdir -p .claude/skills/clinvar-database && curl -fsSL https://doutorai.pt/data/lib/skills__clinvar-database.md -o .claude/skills/clinvar-database/SKILL.md

Paste this command into the terminal, in your project folder, and the component installs automatically.

Content

---
name: clinvar-database
description: "Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine."
---

# ClinVar Database

## Overview

ClinVar is NCBI's freely accessible archive of reports on relationships between human genetic variants and phenotypes, with supporting evidence. The database aggregates information about genomic variation and its relationship to human health, providing standardized variant classifications used in clinical genetics and research

- 🔒 Full content on the Pro plan (€7.99/month) -

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