/shaip/variantformatter-v2¶
Purpose¶
High-performance genomic → transcript → protein formatter.
Optimised for:
- Genomic HGVS
- VCF lines
- Pseudo-VCF inputs
- Batch processing
This endpoint is intended for high-throughput workflows where speed and controlled transcript mapping are required.
Method¶
POST
Path¶
/shaip/variantformatter-v2
Input¶
| Parameter | Type | Required | Description |
|---|---|---|---|
| variant_description | string or array | Yes | Variant input (HGVS, VCF, or pseudo-VCF). Multiple inputs via a JSON array or pipe delimited strings |
| genome_build | string | Yes | GRCh37, GRCh38, hg19, or hg38 |
| transcript_model | string | Yes | refseq, ensembl, or all |
| select_transcripts | string or array | Yes | Transcript selection (see transcript_selection.md) |
| checkonly | boolean or "tx" |
Yes | Validation mode |
| liftover_level | string or bool | No | Controls genomic liftover. True performs full liftover, primary excludes alternative scaffolds, and False disables liftover. Defaults to True. |
Example¶
[
{
"variant_description": "17-50198002-C-A",
"genome_build": "GRCh38",
"transcript_model": "refseq",
"select_transcripts": "mane_select",
"checkonly": false,
"liftover_level": false
}
]
Example Response¶
{
"17-50198002-C-A": {
"errors": [],
"flag": null,
"17-50198002-C-A": {
"p_vcf": "17-50198002-C-A",
"g_hgvs": "NC_000017.11:g.50198002C>A",
"selected_build": "GRCh38",
"genomic_variant_error": null,
"genomic_variant_warnings": null,
"hgvs_t_and_p": {
"NM_000088.4": {
"t_hgvs": "NM_000088.4:c.589G>T",
"p_hgvs_tlc": "NP_000079.2:p.(Gly197Cys)",
"p_hgvs_slc": "NP_000079.2:p.(G197C)",
"select_status": {
"mane_select": true
},
"gene_info": {
"symbol": "COL1A1",
"hgnc_id": "HGNC:2197"
},
"transcript_version_warning": null,
"gapped_alignment_warning": null,
"gap_statement": null,
"transcript_variant_error": null
}
}
}
},
"metadata": {
"variantvalidator_version": "4.0.0",
"variantvalidator_hgvs_version": "4.0.0",
"vvta_version": "vvta_2025_02",
"vvseqrepo_db": "VV_SR_2025_02/master",
"vvdb_version": "vvdb_2025_3",
"variantformatter_version": "4.0.0"
}
}
Behaviour¶
- Parses genomic and VCF-like variant inputs
- Performs genomic → transcript → protein mapping
- Applies transcript filtering based on
select_transcripts - Supports batch submission via arrays or pipe-delimited input
- Optionally performs genome build liftover when enabled
Notes¶
- Multiple inputs
- "17-50198002-C-A|17-50197802-G-T" pipe delimited string
- '["17-50198002-C-A", "17-50198002-C-T"]'
- limit to 10 variants
- Fastest endpoint for genomic inputs
- Transcript selection behaviour is defined in
transcript_selection.md - Prefer
mane_select,mane, or explicit transcript IDs for performance - Avoid
allandrawunless full transcript enumeration is required - Disable
liftover_levelwhere not needed to maximise performance