alterlab-clinvar

alterlab-clinvar is a Bioinformatics & life sciences skill for AI agents, published by AlterLab-IEU in the AlterLab-Academic-Skills repository on GitHub. Skillspace rates alterlab-clinvar B (83/100) and it passed the safety scan; the rating is based on static analysis only.

Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings. Use when assessing whether a variant is pathogenic, likely pathogenic, VUS, likely benign, or benign, resolving conflicting interpretations, or annotating a VCF with ClinVar clinical significance. For population allele frequencies by ancestry use alterlab-gnomad; for somatic cancer mutation frequencies use alterlab-cosmic. Part of the AlterLab Academic Skills suite.

Grade
B
Quality
83 / 100
Safety
Passed
GitHub stars
43

Unproven: rated by static analysis only, not yet compared head-to-head.

This rating describes the version of the repository we crawled; it may have changed since, so go by its current files.

Our review

Architecture
100 / 100
Maturity
Packaged: licensed, with a version or references
Security scan
Low-risk patterns
License
MIT
Adoption
Adopted by 0 other repositories, in 0 collections

What the scanner flagged

  • over-broad allowed-tools ('*')

Not checked yet

  • Not judged on the rubric yet (not a contender in its category)
  • No blind task eval yet
  • Scope (portable / vendor / repo-internal) not assessed; only the top of each category is read for scope
  • Sibling files (scripts, references) not fetched; security scan covers SKILL.md only

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