skills.rest
Runchuan-BU
Runchuan-BUCOMMUNITY
Explore all skills by this author →
GitHub

query-clinvar

Query NCBI ClinVar for clinical significance and annotations of genetic variants.

401|53|Updated Feb 26, 2026
Search Tags:#genetics#ncbi#variant#clinvar#pathogenicity#entrez#clinical-variants
One-click install
npx skills add https://github.com/Runchuan-BU/BioClaw --skill query-clinvar
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: query-clinvar
Source: https://github.com/Runchuan-BU/BioClaw/tree/main/.claude/skills/query-clinvar
Command: npx skills add https://github.com/Runchuan-BU/BioClaw --skill query-clinvar

SYSTEM DOCUMENTATION & REQUIREMENTS

What problem does it solve?

Quickly determine the reported clinical significance of genetic variants by querying the NCBI ClinVar database, saving time compared with manual literature and database searches.

Core Features & Use Cases

  • ClinVar search and retrieval: Perform targeted searches by gene, rsID, disease term, or genomic region to locate ClinVar records.
  • Structured summaries: Extract and summarize clinical_significance, variant titles, and gene annotations for reporting or triage.
  • Use Case: A clinician or researcher can identify known pathogenic BRCA1 variants and obtain concise ClinVar evidence to inform variant interpretation.

Quick Start

Use the query-clinvar skill to look up the clinical significance and summary details for BRCA1 c.68_69delAG (rs80357914).

Frequently Asked Questions about query-clinvar

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

FAQPage Schema
How do I look up ClinVar pathogenicity for a genetic variant using an rsID?▼

You can query ClinVar pathogenicity by searching with an rsID to retrieve structured clinical significance, gene symbols, and variant titles directly from NCBI Entrez endpoints for variant interpretation.

Can I search ClinVar by gene name and disease terms to find variant-disease associations?▼

Yes, ClinVar searches support gene names and disease terms to locate clinical records, returning structured summaries of clinical significance and variant titles to discover variant-disease associations.

What is the best way to get clinical significance annotations for genomic coordinates?▼

Querying ClinVar by genomic coordinates retrieves clinical significance and gene annotations for those specific regions, providing concise structured summaries for downstream reporting and variant triage.

Does this ClinVar query tool require any external dependencies or API keys?▼

No external dependencies are required to query ClinVar; the skill operates directly via NCBI Entrez and ClinVar endpoints to return structured clinical significance data.

What information is included in the structured summaries returned by a ClinVar query?▼

The structured summaries returned include the clinical significance, variant titles, and gene annotations extracted from ClinVar records to support pathogenicity assessment and reporting.

How do I identify known pathogenic BRCA1 variants for variant interpretation?▼

Search ClinVar by the BRCA1 gene name to retrieve records of known variants, extracting clinical significance and annotations to inform clinical variant interpretation and triage.

Related Skills

Explore More Education & Research Skills→
youyinnnyouyinnn
1

clinvar-database

Query NCBI ClinVar for genetic variant clinical significance classifications.

Community
Intermediate
yf8578yf8578
1

query-clinvar

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

Community
Intermediate
SologaSologa
1

clinvar-database

Query NCBI ClinVar for clinical significance and pathogenicity classifications of genetic variants.

Community
Intermediate
felixboehmfelixboehm

clinvar-database

Query NCBI ClinVar for genetic variant clinical significance and pathogenicity.

Community
Intermediate