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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: 16-15016183-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15016183&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15016183,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015027.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "NM_015027.4",
"protein_id": "NP_055842.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 788,
"cds_start": 782,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396410.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015027.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000396410.9",
"protein_id": "ENSP00000379691.4",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 788,
"cds_start": 782,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015027.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396410.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.701A>G",
"hgvs_p": "p.Glu234Gly",
"transcript": "ENST00000569715.5",
"protein_id": "ENSP00000455070.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 761,
"cds_start": 701,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569715.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000535621.6",
"protein_id": "ENSP00000437835.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 498,
"cds_start": 782,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535621.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000957850.1",
"protein_id": "ENSP00000627909.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 816,
"cds_start": 782,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957850.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000881203.1",
"protein_id": "ENSP00000551262.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 815,
"cds_start": 782,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881203.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000881202.1",
"protein_id": "ENSP00000551261.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 810,
"cds_start": 782,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881202.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Glu279Gly",
"transcript": "ENST00000563679.5",
"protein_id": "ENSP00000454791.1",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 806,
"cds_start": 836,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563679.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000881199.1",
"protein_id": "ENSP00000551258.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 806,
"cds_start": 782,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881199.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000881200.1",
"protein_id": "ENSP00000551259.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 797,
"cds_start": 782,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881200.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Glu260Gly",
"transcript": "NM_001324019.2",
"protein_id": "NP_001310948.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 787,
"cds_start": 779,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324019.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.Glu260Gly",
"transcript": "ENST00000881197.1",
"protein_id": "ENSP00000551256.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 787,
"cds_start": 779,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881197.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000881198.1",
"protein_id": "ENSP00000551257.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 779,
"cds_start": 782,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881198.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.Glu246Gly",
"transcript": "NM_001285447.1",
"protein_id": "NP_001272376.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 773,
"cds_start": 737,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285447.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000881204.1",
"protein_id": "ENSP00000551263.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 768,
"cds_start": 782,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881204.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.701A>G",
"hgvs_p": "p.Glu234Gly",
"transcript": "NM_001285444.2",
"protein_id": "NP_001272373.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 761,
"cds_start": 701,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285444.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Glu233Gly",
"transcript": "NM_001285445.2",
"protein_id": "NP_001272374.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 760,
"cds_start": 698,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285445.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.698A>G",
"hgvs_p": "p.Glu233Gly",
"transcript": "ENST00000627450.2",
"protein_id": "ENSP00000486662.1",
"transcript_support_level": 2,
"aa_start": 233,
"aa_end": null,
"aa_length": 760,
"cds_start": 698,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627450.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000940247.1",
"protein_id": "ENSP00000610306.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 759,
"cds_start": 782,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940247.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.701A>G",
"hgvs_p": "p.Glu234Gly",
"transcript": "ENST00000957851.1",
"protein_id": "ENSP00000627910.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 752,
"cds_start": 701,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957851.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.635A>G",
"hgvs_p": "p.Glu212Gly",
"transcript": "ENST00000881201.1",
"protein_id": "ENSP00000551260.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 739,
"cds_start": 635,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881201.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly",
"transcript": "ENST00000940248.1",
"protein_id": "ENSP00000610307.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 737,
"cds_start": 782,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450197.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "c.656A>G",
"hgvs_p": "p.Glu219Gly",
"transcript": "XM_047433790.1",
"protein_id": "XP_047289746.1",
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"aa_start": 219,
"aa_end": null,
"aa_length": 456,
"cds_start": 656,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433790.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "n.504A>G",
"hgvs_p": null,
"transcript": "ENST00000561930.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000561930.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "n.877A>G",
"hgvs_p": null,
"transcript": "ENST00000570001.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000570001.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000275910",
"gene_hgnc_id": null,
"hgvs_c": "n.208T>C",
"hgvs_p": null,
"transcript": "ENST00000617759.1",
"protein_id": null,
"transcript_support_level": 6,
"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000617759.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 4,
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"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"hgvs_c": "n.174+14395A>G",
"hgvs_p": null,
"transcript": "ENST00000562119.5",
"protein_id": "ENSP00000455486.1",
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"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": "ENST00000562119.5"
}
],
"gene_symbol": "PDXDC1",
"gene_hgnc_id": 28995,
"dbsnp": "rs2041782526",
"frequency_reference_population": 0.000006566333,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0.00000342243,
"gnomad_genomes_af": 0.00000656633,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3204221725463867,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.0868,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.355,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015027.4",
"gene_symbol": "PDXDC1",
"hgnc_id": 28995,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Glu261Gly"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000617759.1",
"gene_symbol": "ENSG00000275910",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}