DatabaseClinicalScientific Databases

clinvar-database

ClinVar

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

This page mirrors an upstream repository entry. It does not mean the skill is already part of the SCI Skills curated catalog.

Raw path
scientific-skills/clinvar-database
Allowed tools
-
Repository version
2.31.0
Synced at
March 27, 2026

About this skill

About this skill

ClinVar is NCBI's freely accessible archive of reports on relationships between human genetic variants and phenotypes, with supporting evidence. The database aggregates information about genomic variation and its relationship to human health, providing standardized variant classifications used in clinical genetics and research.

Related upstream skills

Related upstream skills