annotating-variants

annotating-variants is a Bioinformatics & life sciences skill for AI agents, published by maziyarpanahi in the openmed repository on GitHub. Skillspace rates annotating-variants C (74/100) and it passed the safety scan; the rating is based on static analysis only.

Annotates VCF variants and normalizes HGVS nomenclature with public, license-free annotators (Ensembl VEP REST, VEP/SnpEff/ANNOVAR offline) and links variants to gnomAD population frequencies and the clinical context OpenMed extracts. Use when the user wants to predict variant consequences, map HGVS to genomic coordinates, annotate a VCF, attach allele frequencies, or pair variants with phenotype/oncology context. Trigger keywords: VCF, HGVS, variant annotation, VEP, SnpEff, ANNOVAR, consequence, missense, gnomAD, allele frequency, GRCh38, rsID, transcript. Pairs adjacent to OpenMed: combine annotated variants with Genomics/Oncology entities and phenotype from openmed.analyze_text. Tools used are free; restricted clinical databases are user-supplied.

Grade
C
Quality
74 / 100
Safety
Passed
GitHub stars
5,313

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
Basic: a single SKILL.md
Security scan
No issues found
License
Not declared. Check the repository before reusing it.

Not checked yet

  • Category is a classifier prediction; no model has read this skill 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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