genomic-coordinates
Converts genomic intervals between coordinate conventions, normalises and compares variant representations, and detects assembly or contig-naming mismatches before they corrupt an analysis. Used whenever coordinates cross a format, tool, or assembly boundary - converting between BED, GFF/GTF, VCF, SAM/BAM, WIG, PSL, genePred, Picard interval_list, or region strings; reconciling 0-based half-open with 1-based inclusive; left-aligning or trimming indels; checking whether two variant records describe the same change; mapping genomic to transcript, CDS, or protein positions; auditing a BED/GTF/VCF for convention violations; or diagnosing GRCh37 vs hg19 vs GRCh38 vs T2T, chr-prefix, and liftover problems. Triggers include "off by one", "0-based", "1-based", "half-open", "coordinate system", "left-align", "normalize variant", "bcftools norm", "chr prefix", "wrong genome build", "liftover", "REF mismatch", and "HGVS".
- Version
- 1.3
- License
- MIT
- Compatibility
- Requires Python 3.11+. Scripts use only the standard library - no third-party packages and no network access. Variant normalisation needs an uncompressed reference FASTA with exact contig names; .fai enables indexed access. Without .fai the entire FASTA is loaded into memory.
Pinned to revision 68105dd992f1, so it is the text this page describes rather than whatever the author pushed since.
Pre-approved tools experimental
Experimental field. Support varies between clients, so this list is what the author declared, not what your client will enforce.
- Read
- Write
- Edit
- Bash
Files
- skills/genomic-coordinates/SKILL.md
- skills/genomic-coordinates/SKILL_CN.md
- skills/genomic-coordinates/references/format-conventions.md
- skills/genomic-coordinates/references/reference-builds.md
- skills/genomic-coordinates/references/transcript-coordinates.md
- skills/genomic-coordinates/references/variant-representation.md
- skills/genomic-coordinates/scripts/_common.py
- skills/genomic-coordinates/scripts/audit_intervals.py
- skills/genomic-coordinates/scripts/check_contigs.py
- skills/genomic-coordinates/scripts/convert_coords.py
- skills/genomic-coordinates/scripts/normalize_variant.py
Every link opens the file at its source, pinned to the revision this page describes.