clinvar-database

Name: clinvar-database
Availability: InStock
Author: robinbarvaag

Query NCBI ClinVar for genetic variant clinical significance and pathogenicity classifications.

Updated Jan 10, 2026

Search Tags:#genetics #ncbi #variant interpretation #clinvar #pathogenicity #genomic medicine

Ready to run

npx skills add https://github.com/robinbarvaag/poynt --skill clinvar-database-robinbarvaag

💬 Prompt for ChatGPT / Claude Chat▼

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

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

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

Core Features & Use Cases

Variant Searching: Search ClinVar by gene, position, clinical significance, or condition.
Interpretation Guidance: Understand pathogenicity classifications and review status.
Data Access: Utilize E-utilities API or download bulk data via FTP.
Use Case: A researcher needs to determine if a specific variant in the BRCA1 gene is pathogenic and has been reviewed by an expert panel. This Skill can provide that information rapidly.

Quick Start

Search 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 pathogenicity classifications?▼

Query ClinVar by gene, position, clinical significance, or condition to retrieve genetic variant pathogenicity classifications and review status. You can access data programmatically via the NCBI E-utilities API or download bulk datasets via FTP.

Can I search the ClinVar database for pathogenic variants in a specific gene like BRCA1?▼

Yes, you can search the ClinVar database for pathogenic variants in specific genes like BRCA1. The Skill retrieves clinical significance interpretations and review statuses, helping genomic medicine researchers rapidly identify expert panel classifications.

What is clinical significance review status in ClinVar and how do I interpret it?▼

Clinical significance review status in ClinVar indicates the level of expert evaluation for a genetic variant's pathogenicity. It ranges from single submitter classifications to expert panel consensus, providing confidence levels for genomic medicine interpretation.

Does ClinVar support programmatic access via E-utilities API for variant interpretation?▼

Yes, ClinVar supports programmatic access via the NCBI E-utilities API for automated variant interpretation. This allows direct querying of genetic variants by position, gene, clinical significance, and condition for research integration.

Can I download bulk ClinVar data via FTP for genomic medicine research?▼

Yes, you can download bulk ClinVar data via FTP for genomic medicine research. This provides comprehensive access to variant pathogenicity classifications, review statuses, and condition associations for large-scale variant interpretation studies.

How do I find ClinVar variants associated with a specific medical condition?▼

Find ClinVar variants associated with a specific medical condition by searching the database using the condition parameter. The query returns genetic variants linked to that condition along with their clinical significance and pathogenicity classifications.