variant_consequences
Annotate every call in a VCF or BCF in this project against the transcripts of a GenBank reference: the Sequence Ontology term per transcript, Ensembl's IMPACT, HGVS c. and p., the CDS and protein positions, and the distance for an upstream, downstream or intronic call.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| file | No | which call set in this project, by name. Unset, it is the project's only one, and it refuses rather than guessing when there is more than one. | |
| limit | No | how many calls to return in `calls`; the counts are always of all of them. Advanced. | |
| _files | No | The project: record references shaped like _subject. Their records become library documents a tool names in sequences/parts/document; a trace or alignment is found by file name. | |
| offset | No | the coordinate the reference's FIRST base has in the call set's contig. Default 1, the reference is the whole contig; a region cut out of a genome sets where it was cut from. | |
| _subject | No | The record to act on: exactly one of sequence, accession (+source), sample (an id from list_samples) or file ({name, text} or {name, base64}); record_index picks one record of several. | |
| reference | No | the GenBank file the calls were made against, by name. Unset, every GenBank file in the project is a candidate: one is used for every call, several are matched to each call by its CHROM (accession or LOCUS). | |
| min_impact | No | keep only calls whose most severe consequence is rated at least this. Unset keeps every call. | |
| up_down_stream_bp | No | how far from a transcript a call still counts as upstream or downstream of it. SnpEff’s own default is 5,000; the window decides how many annotations each call gets. In bp. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| calls | Yes | one row per ALT allele: chrom, pos, ref, alt, the most severe term, its IMPACT, gene, transcript, HGVS c. and p., and why it was not annotated when it was not | |
| by_term | Yes | how many calls have each most-severe term, over all of them | |
| summary | Yes | what the set holds, generated from the annotation | |
| annotated | Yes | alleles annotated | |
| annotations | Yes | every consequence of every returned call, one per transcript it reaches | |
| not_annotated | Yes | alleles skipped, each with its reason in `calls` |