variant-annotation

variant-annotation is a skill for Claude Code, Codex from zamushwani/biomedical-ai-skills. It costs 0 tokens per session (5,683 once invoked), scanned A, original, MIT.

A workflow for adding biological and clinical meaning to DNA changes found in cancer samples. It works with VCF files, a standard format for recorded genetic variants, and covers inherited and tumour-specific changes.

In plain words
What is it for?
Use it to normalize and annotate VCF files, classify germline and somatic variants, identify likely cancer drivers, and assess tumour mutational burden or microsatellite instability. It also covers neoantigen prediction and variants whose significance is uncertain.
Why use it?
A list of DNA variants does not by itself show whether a change is harmless, disease-related, or useful for treatment decisions. This helps filter, classify, and interpret those variants using named clinical standards and evidence sources.

Skill for Claude CodeCodex

Written for no agent in particular: nothing here depends on one.

Good fit Use it to normalize and annotate VCF files, classify germline and somatic variants, identify likely cancer drivers, and assess tumour mutational burden or microsatellite instability. It also covers neoantigen prediction and variants whose significance is uncertain.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/zamushwani/biomedical-ai-skills/variant-annotation
Install

Getting it into your agent

One page per mod, every tool's command on it. A separate URL per tool would split the same page into five that compete with each other.

Any agent
npx skills add zamushwani/biomedical-ai-skills --skill variant-annotation
Clone the repo
git clone --depth 1 https://github.com/zamushwani/biomedical-ai-skills

Made for: Claude Code, Codex.

Wrote this? Show the measurements

A badge with what this costs and how it scanned, read live from this page, so it follows the numbers instead of freezing them. Markdown for a README, HTML for a documentation site or a project page.

agentmods badge for variant-annotation

README.md
[![agentmods](https://agentmods.dev/badge/skills/zamushwani/biomedical-ai-skills/variant-annotation/github.svg)](https://agentmods.dev/skills/zamushwani/biomedical-ai-skills/variant-annotation)
Your own site
<a href="https://agentmods.dev/skills/zamushwani/biomedical-ai-skills/variant-annotation"><img src="https://agentmods.dev/badge/skills/zamushwani/biomedical-ai-skills/variant-annotation/github.svg" alt="Measured on agentmods" height="20"></a>

Or the 80×15 button, for a site that already has a row of RSS and ATOM ones. Only the verdict fits; the numbers stay here.

agentmods 80×15 button for variant-annotation

Your own site · 80×15
<a href="https://agentmods.dev/skills/zamushwani/biomedical-ai-skills/variant-annotation"><img src="https://agentmods.dev/badge/skills/zamushwani/biomedical-ai-skills/variant-annotation.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 0 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 5,683 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 1 finding. A grade says what 26 rules found in the file — not that it is safe.
Origin original No closer match found in the catalogue.
Token cost

What it costs to keep this loaded

Counted locally with the o200k_base tokenizer, which is exact for GPT models; Claude uses its own tokenizer and its counts differ. Treat this as one consistent yardstick across the catalogue rather than a bill. Prices are per million input tokens.

ModelPer sessionOnce invoked
Fable 5.1 $0.00000 $0.05683
Opus 5 $0.00000 $0.02841
Sonnet 5 $0.00000 $0.01137
Haiku 4.5 $0.00000 $0.00568

Measured 12d ago against content hash 3859d1d29e72, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-12, from the pricing page.

Security

Grade A, and why

variant-annotation scanned grade A with 1 finding against 26 rules in 11 categories — prompt injection, anti-refusal, data exfiltration, privilege escalation, supply chain, agent snooping, system-prompt leakage, SSRF and excessive agency — measured 12d ago.

A static scan of the body, not an audit. Every finding is printed with the line that produced it so you can judge whether it matters here. A mod is markdown that instructs an agent; that is exactly why what it instructs is worth reading.

Makes network callslowCapability

Not a fault in itself. Listed so you know the mod talks to something, and to what.

curl -H "Authorization: Bearer $ONCOKB_TOKEN" \
skills/variant-annotation/SKILL.md · 512 lines

How it starts

The opening of the file, as written. The whole thing — 512 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Variant Annotation

Annotation and clinical interpretation of DNA variants in cancer. Covers VCF normalization and filtering, functional annotation with VEP, germline classification under ACMG/AMP, somatic classification under the AMP/ASCO/CAP tiers and the ClinGen/CGC/VICC oncogenicity standard, tumor mutational burden, microsatellite instability, and neoantigen prediction.

When to Use This Skill

Activate when the user requests:

  • VCF filtering, normalization, or merging
  • Functional annotation (VEP, SnpEff, ANNOVAR)
  • Germline variant classification (ACMG/AMP, pathogenic vs benign)
  • Somatic variant classification (tiers, oncogenicity, actionability)
  • Driver vs passenger discrimination
  • OncoKB or CIViC evidence lookup
  • Tumor mutational burden calculation
  • Microsatellite instability estimation
  • Neoantigen prediction or HLA binding
  • Interpreting a variant of uncertain significance

Inputs

Data Type Format Source
Variant calls VCF 4.2+, bgzipped and indexed GATK, Mutect2, DeepVariant, Strelka2
Reference genome FASTA with .fai GRCh38 (or GRCh37 for legacy cohorts)
Somatic MAF Mutation Annotation Format TCGA GDC, cBioPortal
Panel definition BED Assay manufacturer, for TMB denominators
HLA type 4-digit alleles OptiType, HLA-HD, arcasHLA

Environment

Versions verified 2026-08.

bcftools            1.24        VCF manipulation, normalization
Ensembl VEP         116.1       functional annotation, the current default
SnpEff              5.4c        alternative annotator
ANNOVAR             current     still distributed, registration required

Bioconductor
  VariantAnnotation 1.58.0      VCF parsing and coding consequences in R
  maftools          2.28.0      somatic MAF summarization, TMB, signatures

Neoantigens
  pVACtools         7.1.2       neoantigen pipeline (griffithlab)
  NetMHCpan         4.1+        MHC class I binding; academic licence
Microsatellite instability, and which tool is still alive:

  msisensor       ARCHIVED. ding-lab/msisensor was archived, last push 2021.
                  Do not start new work on it.
  msisensor-pro   v1.3.0 (2024-09). Current choice, tumor-only or paired.
  msisensor2      last push 2024-04. Tumor-only, no matched normal.
  MANTIS          paired tumor/normal, still used in clinical settings.

All four are read-based. MSI can also be inferred from a panel using
MSIsensor-pro's baseline mode, but the baseline must be built on the same
assay or the calls are not comparable.

Read the full file on GitHub · 512 lines

Files

What ships with it

6 files beside SKILL.md in the same directory: the scripts, references and assets a skill reads on demand. Not counted in the per-session cost; read them before you install if any of them is executable.

Changes

What this file has done since we first saw it

Hashed on every crawl. A supply-chain change to an agent config is a question of when, not whether, so the history is kept rather than the latest state alone.

  1. 12d ago First seen · 512 lines · 0 tokens per session scan A 3859d1d29e72

Subscribe to this mod's changes

variant-annotation is a skill published in the GitHub repository zamushwani/biomedical-ai-skills (1 stars, last pushed 13d ago), licensed MIT. It costs nothing until one of its globs matches a file; then it loads 5,683 tokens. A static security scan graded it A with 1 finding (makes network calls). No closer match exists in the catalogue, so it is treated as the original; first seen 2026-08-31.

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