query-clinvar

Query the NCBI ClinVar database for clinical significance of genetic variants.

1|Updated Mar 12, 2026

Search Tags:#genetics #variant #gene #clinvar #pathogenicity #clinical significance

Ready to run

npx skills add https://github.com/yf8578/clawomics --skill query-clinvar-yf8578

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: query-clinvar
Source: https://github.com/yf8578/clawomics/tree/main/skills/query-clinvar
Command: npx skills add https://github.com/yf8578/clawomics --skill query-clinvar-yf8578

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill requires Bio, and includes scripts (resource) components.

What problem does it solve?

This Skill helps users understand the clinical significance and pathogenicity of genetic variants by querying the comprehensive ClinVar database.

Core Features & Use Cases

Variant Pathogenicity Check: Determine if a specific genetic variant is classified as pathogenic, benign, or uncertain.
Gene-Specific Variant Search: Find known pathogenic variants within a particular gene.
Disease Association: Identify variants linked to specific diseases.
Use Case: A researcher investigating a patient's rare disease can use this Skill to check if any identified variants are known to be disease-causing in ClinVar.

Quick Start

Use the query-clinvar skill to find pathogenic variants in the BRCA1 gene.

Frequently Asked Questions about query-clinvar

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

FAQPage Schema

How do I check the clinical significance of a genetic variant in ClinVar?▼

To check the clinical significance of a genetic variant in ClinVar, query the database using the variant ID (rsID), gene name, or chromosomal location. This retrieves the variant's pathogenicity classification, indicating if it is pathogenic, benign, or uncertain.

How can I find known pathogenic variants for a specific gene?▼

You can find known pathogenic variants for a specific gene by querying ClinVar with the gene name. This skill performs a gene-specific variant search to retrieve clinical significance information and identify variants linked to human health conditions.

What is the best way to identify genetic variants associated with a specific disease?▼

The best way to identify genetic variants associated with a specific disease is to query the ClinVar database using disease associations. This retrieves clinical significance information and pathogenicity implications for variants linked to that condition.

Can I search ClinVar by chromosomal location to assess variant pathogenicity?▼

Yes, you can search ClinVar by chromosomal location to assess variant pathogenicity. This skill supports querying genetic variants by chromosomal coordinates to retrieve their clinical significance classifications and understand their implications for human health.

Does the query-clinvar skill require the Bio dependency to retrieve clinical significance information?▼

Yes, the query-clinvar skill requires the Bio dependency to function. This prerequisite environment setup allows the skill to successfully query the NCBI ClinVar database and retrieve variant pathogenicity and clinical significance data.