tooluniverse-variant-analysis

tooluniverse-variant-analysis is a skill for Claude Code from mims-harvard/ToolUniverse. It costs 77 tokens per session (6,497 once invoked), scanned A, original, Apache-2.0.

A guide for working with VCF files, the standard text format for lists of genetic variants. It parses variants, adds annotations, classifies their effects, filters by variant allele fraction, and compares samples or conditions.

In plain words
What is it for?
Use it to parse and annotate VCFs, classify coding changes such as missense or frameshift variants, calculate variant fractions, filter results, and compare variant sets.
Why use it?
It helps avoid errors when counting, filtering, or classifying variants, including mistakes caused by mixed coding and non-coding records. It also preserves analysis-specific rules for multi-allelic variants and ploidy.

Skill for Claude Code

Written for Claude Code: disable-model-invocation in frontmatter. Also seen: positional $N argument.

Part of the tooluniverse plugin — 140 skills, 8 commands, 1 agent, 1 hook, 1 MCP server shipped together

Good fit Use it to parse and annotate VCFs, classify coding changes such as missense or frameshift variants, calculate variant fractions, filter results, and compare variant sets.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/mims-harvard/tooluniverse/tooluniverse-variant-analysis
About the project

ToolUniverse is a collection of tools, interfaces, and supporting components for building AI systems that perform scientific work. It is for developers creating AI scientist agents that use APIs, databases, machine-learning tools, and domain-specific utilities. The catalogue includes skills, commands, an MCP server, an agent, and a hook for working with the ecosystem.

mims-harvard/ToolUniverse · 1,680 stars · on GitHub · aiscientist.tools

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 mims-harvard/ToolUniverse --skill tooluniverse-variant-analysis
Clone the repo
git clone --depth 1 https://github.com/mims-harvard/ToolUniverse

Made for: Claude Code.

Or install tooluniverse, the plugin that ships this one along with the rest of its 140 skills, 8 commands, 1 agent, 1 hook, 1 MCP server.

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 tooluniverse-variant-analysis

README.md
[![agentmods](https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-variant-analysis/github.svg)](https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-variant-analysis)
Your own site
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-variant-analysis"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-variant-analysis/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 tooluniverse-variant-analysis

Your own site · 80×15
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-variant-analysis"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-variant-analysis.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 77 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 6,497 The whole file, excluding the scripts and references it only reads on demand.
Security scan A 0 findings. A grade says what 26 rules found in the file — not that it is safe. Third-party audits
  • Socket pass 29 Mar 2026
  • Snyk warn 29 Mar 2026
  • NVIDIA SkillSpector pass 7 Sept 2026
How audits are shown
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 $0.00077 $0.06497
Opus 5 $0.00039 $0.03248
Sonnet 5 $0.00015 $0.01299
Haiku 4.5 $0.00008 $0.00650

Measured 7d ago against content hash 966edcda4d9d, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-10, from the pricing page.

Security

Grade A, and why

tooluniverse-variant-analysis scanned grade A with 0 findings 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 7d ago.

The scan reads SKILL.md. This mod also ships 7 executable files (python_implementation.py, scripts/annotate_variants.py, scripts/coding_variant_filter.py, …), listed below but not scanned — reading those needs a real analyzer, not pattern matching.

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.

Nothing flagged

None of the 26 patterns this scan looks for appear in this file: no shell pipes, no recursive deletes, no credential paths, no hidden text, no instruction-override or anti-refusal phrasing, no agent-config snooping. That is not a guarantee, it is the absence of the things that are checkable.

plugin/skills/tooluniverse-variant-analysis/SKILL.md · 503 lines

How it starts

The opening of the file, as written. The whole thing — 503 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Variant Analysis and Annotation

RULE ZERO — Check for pre-computed results FIRST

Before following any instruction below, scan the data folder for:

  • *_executed.ipynb → read with tu run read_executed_notebook '{"data_folder":"<path>","search":"<keyword>"}' and cite its cell outputs as the authoritative answer
  • Pre-computed result files (CSV/TSV with names like *results*, *deseq*, *enrich*, *stats*, *_simplified.csv) → read directly and report the requested value
  • Canonical analysis scripts (analysis.R, run_*.py, find_*.R, *.Rmd) → execute as-is and read the output

Only follow this skill's re-analysis recipe below if none of the above exist. Re-running from raw data produces different numbers than the published answer and is much slower (often 5-10× turn count).


PRIMARY SCRIPTS — use these FIRST

These bundled scripts encode the question-specific gotchas (denominator choices, ploidy defaults, multi-allelic split, multi-row Excel headers, non-coding allowlist). They emit labelled KEY=VALUE lines that are easier to parse than ad-hoc pandas/awk output. Prefer them over writing new code.

Script When to use it
gatk_haplotypecaller_pipeline.py Any "how many SNPs / indels were called by HaplotypeCaller from the BAM" question. Handles BWA index → align → sort → index → HaplotypeCaller, OR can start from an existing BAM (skip alignment), OR only count an existing VCF. Default --ploidy 2 (matches GATK's own default — most "called by HaplotypeCaller" GTs were generated with this). Pass --ploidy 1 for explicit haploid prokaryote calling. Multi-allelic split + bcftools-style SNP/indel detection is built in.
coding_variant_filter.py "Average number of CHIP / coding variants per sample after filtering out intronic, intergenic, and UTR variants." Two-stage canonical filter: (1) drop Zygosity == Reference rows (when present — these inflate counts ~10×), (2) drop intronic/intergenic/UTR/upstream/downstream SO terms. Handles 2-row VarSeq Excel headers and per-sample folders or combined CSVs.
variant_fraction.py "Fraction of variants with VAF < X annotated as Y" — denominator is the CODING subset only (synonymous/missense/splice_region/stop_gained/lost/start_lost/frameshift/inframe indel), NOT all records.

Read the full file on GitHub · 503 lines

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. 7d ago First seen · 503 lines · 77 tokens per session scan A 966edcda4d9d

Subscribe to this mod's changes

tooluniverse-variant-analysis is a skill published in the GitHub repository mims-harvard/ToolUniverse (1,680 stars, last pushed yesterday), licensed Apache-2.0. It adds 77 tokens to every session and 6,497 once invoked, about $0.0004 per session on Opus 5. A static security scan graded it A with 0 findings. No closer match exists in the catalogue, so it is treated as the original; first seen 2026-09-03.

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