clinvar-database

Query NCBI ClinVar for genetic variant clinical significance and pathogenicity.

Updated Mar 10, 2026

Search Tags:#genomics #genetic variants #ncbi #variant interpretation #clinvar #pathogenicity

Ready to run

npx skills add https://github.com/felixboehm/biochem-allergy --skill clinvar-database-felixboehm

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: clinvar-database
Source: https://github.com/felixboehm/biochem-allergy/tree/main/.claude/skills/clinvar-database
Command: npx skills add https://github.com/felixboehm/biochem-allergy --skill clinvar-database-felixboehm

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

This Skill simplifies the process of querying the ClinVar database to understand the clinical significance of genetic variants, aiding in genomic medicine and research.

Core Features & Use Cases

Variant Search: Find variants by gene, position, or clinical significance.
Interpretation: Understand pathogenicity classifications and review statuses.
Data Access: Utilize E-utilities API or FTP for programmatic access and bulk downloads.
Use Case: A researcher needs to determine if a specific variant in the BRCA1 gene is pathogenic for hereditary breast cancer. They use this Skill to query ClinVar, retrieve the variant's classification, and review the supporting evidence.

Quick Start

Query ClinVar for pathogenic variants in 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 genetic variant clinical significance?▼

To query ClinVar for genetic variant clinical significance, you can use this Skill to search by gene, genomic position, or pathogenicity classification via the NCBI E-utilities API to retrieve relevant variant annotations.

What is the best way to retrieve pathogenicity classifications for BRCA1 variants from ClinVar?▼

Retrieving pathogenicity classifications for BRCA1 variants from ClinVar involves searching the database by gene name to return the variant's clinical significance, review status, and supporting evidence for hereditary cancer research.

Can I use E-utilities and FTP for programmatic access to ClinVar genomic data?▼

Yes, you can use E-utilities and FTP for programmatic access to ClinVar genomic data, supporting both targeted API queries for variant annotation and bulk FTP downloads for large-scale clinical interpretation workflows.

Do I need to understand variant classification systems to interpret ClinVar data?▼

Yes, you need to understand variant classification systems to interpret ClinVar data, as the Skill requires familiarity with pathogenicity classifications and review statuses to accurately analyze genomic data for clinical workflows.

Does ClinVar support bulk downloads for genomic data analysis workflows?▼

ClinVar supports bulk downloads for genomic data analysis workflows through its FTP service, allowing researchers to programmatically retrieve large datasets for comprehensive variant annotation and clinical interpretation.