← 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: 12-62294271-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=62294271&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 62294271,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001252078.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "NM_001252078.2",
"protein_id": "NP_001239007.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 981,
"cds_start": 182,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 14971,
"mane_select": "ENST00000280377.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252078.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000280377.10",
"protein_id": "ENSP00000280377.5",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 981,
"cds_start": 182,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 14971,
"mane_select": "NM_001252078.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280377.10"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000353364.7",
"protein_id": "ENSP00000258123.4",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 952,
"cds_start": 182,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 14950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353364.7"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000312635.10",
"protein_id": "ENSP00000309240.6",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 235,
"cds_start": 182,
"cds_end": null,
"cds_length": 708,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312635.10"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000957648.1",
"protein_id": "ENSP00000627707.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 1022,
"cds_start": 182,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957648.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000957645.1",
"protein_id": "ENSP00000627704.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 973,
"cds_start": 182,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957645.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "NM_006313.3",
"protein_id": "NP_006304.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 952,
"cds_start": 182,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 14884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006313.3"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000913305.1",
"protein_id": "ENSP00000583364.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 944,
"cds_start": 182,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913305.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000886868.1",
"protein_id": "ENSP00000556927.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 938,
"cds_start": 182,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886868.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000957647.1",
"protein_id": "ENSP00000627706.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 923,
"cds_start": 182,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957647.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000957650.1",
"protein_id": "ENSP00000627709.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 897,
"cds_start": 182,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957650.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000886869.1",
"protein_id": "ENSP00000556928.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 894,
"cds_start": 182,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886869.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000886867.1",
"protein_id": "ENSP00000556926.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 890,
"cds_start": 182,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886867.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000957649.1",
"protein_id": "ENSP00000627708.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 861,
"cds_start": 182,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957649.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000957646.1",
"protein_id": "ENSP00000627705.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 792,
"cds_start": 182,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957646.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.167A>T",
"hgvs_p": "p.Tyr56Phe",
"transcript": "ENST00000549237.5",
"protein_id": "ENSP00000448393.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 239,
"cds_start": 167,
"cds_end": null,
"cds_length": 720,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549237.5"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "NM_001252079.2",
"protein_id": "NP_001239008.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 235,
"cds_start": 182,
"cds_end": null,
"cds_length": 708,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252079.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "ENST00000549523.5",
"protein_id": "ENSP00000447603.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 174,
"cds_start": 182,
"cds_end": null,
"cds_length": 525,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549523.5"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.20A>T",
"hgvs_p": "p.Tyr7Phe",
"transcript": "ENST00000548836.1",
"protein_id": "ENSP00000446843.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 138,
"cds_start": 20,
"cds_end": null,
"cds_length": 419,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548836.1"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "NM_001351161.2",
"protein_id": "NP_001338090.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 121,
"cds_start": 182,
"cds_end": null,
"cds_length": 366,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351161.2"
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe",
"transcript": "NM_001351162.2",
"protein_id": "NP_001338091.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 82,
"cds_start": 182,
"cds_end": null,
"cds_length": 249,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351162.2"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.-1568A>T",
"hgvs_p": null,
"transcript": "NM_001351159.2",
"protein_id": "NP_001338088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 860,
"cds_start": null,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351159.2"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.-417A>T",
"hgvs_p": null,
"transcript": "NM_001351160.2",
"protein_id": "NP_001338089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351160.2"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.-877A>T",
"hgvs_p": null,
"transcript": "NM_001351163.2",
"protein_id": "NP_001338092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351163.2"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.-816A>T",
"hgvs_p": null,
"transcript": "NM_001351164.2",
"protein_id": "NP_001338093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351164.2"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.-2350A>T",
"hgvs_p": null,
"transcript": "NM_001351165.2",
"protein_id": "NP_001338094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351165.2"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.-964A>T",
"hgvs_p": null,
"transcript": "NM_001351166.2",
"protein_id": "NP_001338095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351166.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.189A>T",
"hgvs_p": null,
"transcript": "ENST00000537297.2",
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000537297.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.190A>T",
"hgvs_p": null,
"transcript": "ENST00000546718.5",
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000546718.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.198A>T",
"hgvs_p": null,
"transcript": "ENST00000548524.5",
"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": 648,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000548524.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.233A>T",
"hgvs_p": null,
"transcript": "ENST00000550632.5",
"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": 728,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000550632.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.190A>T",
"hgvs_p": null,
"transcript": "ENST00000551206.5",
"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": 1022,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551206.5"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.193A>T",
"hgvs_p": null,
"transcript": "NR_147078.2",
"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": 14985,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147078.2"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.193A>T",
"hgvs_p": null,
"transcript": "NR_147079.2",
"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": 14987,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147079.2"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.193A>T",
"hgvs_p": null,
"transcript": "NR_147080.2",
"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": 14818,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147080.2"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.193A>T",
"hgvs_p": null,
"transcript": "NR_147081.2",
"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": 14900,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147081.2"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.193A>T",
"hgvs_p": null,
"transcript": "NR_147082.2",
"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": 15046,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147082.2"
}
],
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"dbsnp": "rs763284082",
"frequency_reference_population": 6.8461264e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84613e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36726635694503784,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.481,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1217,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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_001252078.2",
"gene_symbol": "USP15",
"hgnc_id": 12613,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Tyr61Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}