tooluniverse-variant-to-mechanism

tooluniverse-variant-to-mechanism is a skill for Claude Code from mims-harvard/ToolUniverse. It costs 97 tokens per session (4,599 once invoked), scanned A, original, Apache-2.0.

A genetics analysis skill that traces a DNA variant from its regulatory setting to affected genes, biological pathways, and possible traits or disease effects. It combines evidence from multiple databases into a supported explanation of the likely mechanism.

In plain words
What is it for?
Use it to investigate GWAS findings, non-coding variants, candidate causal genes, regulatory effects, and links between variants and disease pathways.
Why use it?
It connects information that is often scattered across separate genetic, molecular, and disease resources. This helps explain how a variant may lead to a biological outcome instead of stopping at its location or identifier.

Skill for Claude Code

Written for Claude Code: disable-model-invocation in frontmatter.

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

Good fit Use it to investigate GWAS findings, non-coding variants, candidate causal genes, regulatory effects, and links between variants and disease pathways.

Compare 6 skills from other repositories ↓
Install with agentmods
npx agentmods add skills/mims-harvard/tooluniverse/tooluniverse-variant-to-mechanism
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-to-mechanism
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-to-mechanism

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

Your own site · 80×15
<a href="https://agentmods.dev/skills/mims-harvard/tooluniverse/tooluniverse-variant-to-mechanism"><img src="https://agentmods.dev/badge/skills/mims-harvard/tooluniverse/tooluniverse-variant-to-mechanism.svg" alt="Reviewed on agentmods" width="80" height="20"></a>
Per session 97 Skills are progressive disclosure: only the name and description are preloaded; the body loads when the skill is used.
When invoked 4,599 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. Third-party audits
  • NVIDIA SkillSpector warn 7 Sept 2026
SkillSpector: 1 finding, up to medium

These are SkillSpector’s own severities. On a checked sample its high-severity flags on skills were ~96% false positives — a documented command, a public API, a “never do X” rule — so we show them as a caution to read, not a verdict. Why →

  • medium Excessive Agency · line 208
    Skill enables autonomous high-impact decisions without human-in-the-loop verification. Critical operations (destructive commands, financial transactions, data deletion) should require explicit user confirmation.
    Fix: Add human-in-the-loop confirmation for destructive, irreversible, or high-impact operations. Never auto-execute commands that modify files, send data, or alter system state.
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 $0.00097 $0.04599
Opus 5 $0.00048 $0.02299
Sonnet 5 $0.00019 $0.00920
Haiku 4.5 $0.00010 $0.00460

Measured 8d ago against content hash d1c30cb5d81f, method: parsed. Prices are Anthropic first-party input rates as of 2026-09-12, from the pricing page.

Security

Grade A, and why

tooluniverse-variant-to-mechanism 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 8d 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.

vep = requests.get(f"https://rest.ensembl.org/vep/human/id/{rsid}?content-type=application/json").json()
plugin/skills/tooluniverse-variant-to-mechanism/SKILL.md · 378 lines

How it starts

The opening of the file, as written. The whole thing — 378 lines — stays where its author put it; the contents beside it link to each section on GitHub.

Variant-to-Mechanism Analysis Skill

Trace the full causal chain from a genetic variant to its disease mechanism: regulatory context, target gene(s), molecular pathways, and phenotypic consequences. Integrates 7+ databases across 3 evidence layers (regulatory, molecular, disease) to build an evidence-graded mechanistic model.

IMPORTANT: Always use English terms in tool calls. Respond in the user's language.


LOOK UP, DON'T GUESS

When uncertain about any scientific fact, SEARCH databases first (PubMed, UniProt, ChEMBL, ClinVar, etc.) rather than reasoning from memory. A database-verified answer is always more reliable than a guess.


When to Use This Skill

Apply when users:

  • Ask "how does rs7903146 cause type 2 diabetes?"
  • Want to trace a GWAS variant to its biological mechanism
  • Need to connect a non-coding variant to downstream pathways
  • Ask "what gene does this variant affect and through what pathway?"
  • Want a mechanistic narrative for a regulatory variant
  • Need to identify the causal gene for a GWAS locus
  • Ask "what is the functional impact of this intronic SNP?"

NOT for (use other skills instead):

  • Coding variant pathogenicity / ACMG classification -> Use tooluniverse-variant-interpretation
  • Pure regulatory element annotation without mechanism -> Use tooluniverse-regulatory-genomics
  • Pure GWAS hit listing without mechanism -> Use tooluniverse-gwas-snp-interpretation
  • Pharmacogenomic variant annotation -> Use tooluniverse-pharmacogenomics
  • Gene-disease association without variant context -> Use tooluniverse-gene-disease-association

Input Parameters

Parameter Required Description Example
variant Yes rsID or genomic coordinates "rs7903146" or "10:112998590:C:T"
trait No Disease/trait context (helps prioritize) "type 2 diabetes"
tissue No Tissue of interest for eQTL/expression "pancreas"

Workflow Overview

Read the full file on GitHub · 378 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. 8d ago First seen · 378 lines · 97 tokens per session scan A d1c30cb5d81f

Subscribe to this mod's changes

tooluniverse-variant-to-mechanism is a skill published in the GitHub repository mims-harvard/ToolUniverse (1,680 stars, last pushed 3d ago), licensed Apache-2.0. It adds 97 tokens to every session and 4,599 once invoked, about $0.0005 per session on Opus 5. 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 2026-09-03.

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