Home / ammawla / encode-toolkit · plugin/skills/ensembl-annotation/SKILL.md · GitHub

ensembl-annotation skillA

ensembl-annotation is agent-read markdown (skill) from ammawla/encode-toolkit: Query the Ensembl REST API for regulatory feature annotations, variant effect prediction (VEP), coordinate liftover, gene lookups, and cross-references. Use when the user needs to annotate variants with VEP (consequence, CADD, REVEL, SpliceAI), check Ensembl Regulatory Build overlap for ENCODE regions, convert coordinates between GRCh37 and GRCh38, resolve gene IDs (Ensembl ↔ symbol ↔ RefSeq), look up gene phenotype associations, or cross-reference ENCODE targets with Ensembl annotations. Also u.

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What the file says

# Query the Ensembl REST API

## When to Use

- User wants to annotate variants with Ensembl VEP (Variant Effect Predictor) consequences
- User asks about "VEP", "Ensembl", "variant annotation", "regulatory build", or "gene annotation"
- User needs to convert coordinates between assemblies using Ensembl's liftover API
- User wants to check the Ensembl Regulatory Build for overlap with ENCODE elements
- Example queries: "run VEP on my variant list", "annotate SNPs with regulatory consequences", "check Ensembl regulatory build for my peaks"

Annotate variants, look up regulatory features, convert coordinates, and resolve gene identifiers using the Ensembl REST API.

## Scientific Rationale

**The question**: "What does the Ensembl Regulatory Build say about this region, and what is the predicted effect of this variant?"

The Ensembl Regulatory Build integrates ENCODE, Roadmap Epigenomics, and Blueprint data into a unified annotation of regulatory features across human cell types. The Variant Effect Predictor (VEP) is the standard tool for variant consequence prediction, integrating 50+ annotation sources including CADD, REVEL, SpliceAI, and AlphaMissense.
…

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How to install

Latest version
mdr add ammawla/encode-toolkit/ensembl-annotation@git:20260312.665e731
Exact content
mdr add ammawla/encode-toolkit/ensembl-annotation@sha256:2bd15faafc685226

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Versions

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git:20260312.665e731 latest2026-03-12 665e731 14,751 BA view

Audit of the latest version

A  17 of 17 checks passed. Deterministic, no model, same answer every run.
  • pass: Frontmatter block present
  • pass: Frontmatter declares a name
  • pass: Frontmatter declares a description
  • pass: Size between 200 bytes and 200 KB (14751 bytes)
  • pass: No zero-width or bidi control characters
  • pass: No instruction hidden inside an HTML comment
  • pass: No link to an exfiltration or paste host
  • pass: No credential-shaped string
  • pass: No instruction to send local credentials anywhere
  • pass: No text hidden with inline styles
  • pass: No prompt-injection phrasing
  • pass: No curl or wget piped into a shell
  • pass: No recursive delete of root, home or parent
  • pass: No instruction to read or print local credentials
  • pass: No base64 blob over 200 characters
  • pass: No link to a raw IP address
  • pass: No script tag

Source

GitHub

ammawla/encode-toolkit · 20 stars · license AGPL-3.0 · pushed 2026-09-21 · branch main

API

GET https://markdownregistry.com/api/v1/artifacts/art_eudwlvv3z5lmvnwz
GET https://markdownregistry.com/api/v1/resolve?ref=ammawla/encode-toolkit/ensembl-annotation
GET https://markdownregistry.com/api/v1/blob/2bd15faafc6852266bd0b0fe19f27bfd3d67ca7286017dbaa7de91203bd6dd25

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ensembl-annotation skill
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