← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-54281496-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54281496&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54281496,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_031157.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "NM_031157.4",
"protein_id": "NP_112420.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 372,
"cds_start": 128,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340913.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031157.4"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000340913.11",
"protein_id": "ENSP00000341826.7",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 372,
"cds_start": 128,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031157.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340913.11"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000546500.5",
"protein_id": "ENSP00000448617.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546500.5"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000547276.5",
"protein_id": "ENSP00000447260.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 267,
"cds_start": 128,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547276.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.127dupT",
"hgvs_p": null,
"transcript": "ENST00000547566.5",
"protein_id": "ENSP00000449913.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547566.5"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000869553.1",
"protein_id": "ENSP00000539612.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 378,
"cds_start": 128,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869553.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000677210.1",
"protein_id": "ENSP00000503610.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 372,
"cds_start": 128,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677210.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000677375.1",
"protein_id": "ENSP00000503651.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 326,
"cds_start": 128,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677375.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "NM_002136.4",
"protein_id": "NP_002127.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002136.4"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000550482.2",
"protein_id": "ENSP00000446486.2",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550482.2"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000938109.1",
"protein_id": "ENSP00000608168.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938109.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000938110.1",
"protein_id": "ENSP00000608169.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938110.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000938111.1",
"protein_id": "ENSP00000608170.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938111.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000938113.1",
"protein_id": "ENSP00000608172.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938113.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000945499.1",
"protein_id": "ENSP00000615558.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945499.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000945500.1",
"protein_id": "ENSP00000615559.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 320,
"cds_start": 128,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945500.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000677249.1",
"protein_id": "ENSP00000503649.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 319,
"cds_start": 128,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677249.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000330752.12",
"protein_id": "ENSP00000333504.8",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 307,
"cds_start": 128,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330752.12"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000938114.1",
"protein_id": "ENSP00000608173.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 252,
"cds_start": 128,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938114.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000677385.1",
"protein_id": "ENSP00000502985.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 242,
"cds_start": 128,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677385.1"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.184dupT",
"hgvs_p": "p.Cys62fs",
"transcript": "ENST00000548688.5",
"protein_id": "ENSP00000447782.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 230,
"cds_start": 185,
"cds_end": null,
"cds_length": 694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548688.5"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000547708.5",
"protein_id": "ENSP00000448229.1",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 155,
"cds_start": 128,
"cds_end": null,
"cds_length": 470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547708.5"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000551702.5",
"protein_id": "ENSP00000448117.1",
"transcript_support_level": 3,
"aa_start": 43,
"aa_end": null,
"aa_length": 144,
"cds_start": 128,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551702.5"
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs",
"transcript": "ENST00000938112.1",
"protein_id": "ENSP00000608171.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 325,
"cds_start": 128,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.-9dupT",
"hgvs_p": null,
"transcript": "ENST00000678077.1",
"protein_id": "ENSP00000504814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678077.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.-9dupT",
"hgvs_p": null,
"transcript": "ENST00000679101.1",
"protein_id": "ENSP00000503166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.16-593dupT",
"hgvs_p": null,
"transcript": "ENST00000678919.1",
"protein_id": "ENSP00000504604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678919.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.16-298dupT",
"hgvs_p": null,
"transcript": "ENST00000678690.1",
"protein_id": "ENSP00000503229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 53,
"cds_start": null,
"cds_end": null,
"cds_length": 162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.-75+675dupT",
"hgvs_p": null,
"transcript": "ENST00000676794.1",
"protein_id": "ENSP00000504819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 45,
"cds_start": null,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.742dupT",
"hgvs_p": null,
"transcript": "ENST00000547870.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547870.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.237dupT",
"hgvs_p": null,
"transcript": "ENST00000676725.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676725.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.127dupT",
"hgvs_p": null,
"transcript": "ENST00000677220.1",
"protein_id": "ENSP00000502987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.237dupT",
"hgvs_p": null,
"transcript": "ENST00000678418.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.186dupT",
"hgvs_p": null,
"transcript": "ENST00000679228.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.209dupT",
"hgvs_p": null,
"transcript": "NR_135167.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135167.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258344",
"gene_hgnc_id": null,
"hgvs_c": "n.545+4322dupT",
"hgvs_p": null,
"transcript": "ENST00000553061.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.48+675dupT",
"hgvs_p": null,
"transcript": "ENST00000678365.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000678365.1"
}
],
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.901,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031157.4",
"gene_symbol": "HNRNPA1",
"hgnc_id": 5031,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.127dupT",
"hgvs_p": "p.Cys43fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000553061.1",
"gene_symbol": "ENSG00000258344",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.545+4322dupT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}