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clinvar-database

Query NCBI ClinVar for clinical significance classifications of human genetic variants.

8|Updated Nov 19, 2025
Search Tags:#genetics#ncbi#variant interpretation#clinvar#pathogenicity#genomic medicine
One-click install
npx skills add https://github.com/sanand0/scientific-research --skill clinvar-database-sanand0
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: clinvar-database
Source: https://github.com/sanand0/scientific-research/tree/main/.claude/skills/clinvar-database
Command: npx skills add https://github.com/sanand0/scientific-research --skill clinvar-database-sanand0

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This Skill simplifies the process of querying the NCBI ClinVar database, enabling users to quickly find and interpret the clinical significance of genetic variants.

Core Features & Use Cases

  • Variant Interpretation: Understand the pathogenicity of genetic variants (e.g., pathogenic, benign, VUS).
  • Data Access: Programmatically access ClinVar data via E-utilities API or download bulk data from FTP.
  • Use Case: A researcher needs to determine if a specific variant in the BRCA1 gene is associated with an increased risk of breast cancer. They can use this Skill to query ClinVar and retrieve the variant's classification, review status, and supporting evidence.

Quick Start

Use the clinvar-database skill to find all pathogenic variants for the BRCA1 gene.

Frequently Asked Questions about clinvar-database

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I query ClinVar for the clinical significance of a genetic variant?▼

To query ClinVar for clinical significance, search by gene name, genomic position, or pathogenicity classification to retrieve variant interpretation data and supporting evidence.

What is the best way to find all pathogenic variants in a specific gene using ClinVar?▼

Finding all pathogenic variants in a gene requires querying the ClinVar database by gene name and filtering the results by clinical significance to identify pathogenic mutations.

Can I access ClinVar data programmatically using the NCBI E-utilities API?▼

Yes, you can access ClinVar data programmatically using the NCBI E-utilities API to retrieve automated clinical significance classifications for human genetic variants.

Does ClinVar support bulk data downloads for genomic medicine applications?▼

ClinVar supports bulk data downloads via FTP, providing full access to clinical significance classifications and variant interpretation data for large-scale genomic medicine research.

What types of clinical significance classifications can I retrieve when querying ClinVar?▼

Querying ClinVar retrieves clinical significance classifications including pathogenic, benign, and VUS, along with review status and supporting evidence for genetic variants.

How do I get variant classification and review status for BRCA1 mutations from ClinVar?▼

To get BRCA1 variant classifications from ClinVar, query the database by gene name to retrieve clinical significance, review status, and supporting evidence for associated mutations.

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