← 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: 12-62389649-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=62389649&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 62389649,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001252078.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Phe534Phe",
"transcript": "NM_001252078.2",
"protein_id": "NP_001239007.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 981,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280377.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252078.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Phe534Phe",
"transcript": "ENST00000280377.10",
"protein_id": "ENSP00000280377.5",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 981,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001252078.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280377.10"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1515C>T",
"hgvs_p": "p.Phe505Phe",
"transcript": "ENST00000353364.7",
"protein_id": "ENSP00000258123.4",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 952,
"cds_start": 1515,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353364.7"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1725C>T",
"hgvs_p": "p.Phe575Phe",
"transcript": "ENST00000957648.1",
"protein_id": "ENSP00000627707.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1725,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957648.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Phe534Phe",
"transcript": "ENST00000957645.1",
"protein_id": "ENSP00000627704.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 973,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957645.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1515C>T",
"hgvs_p": "p.Phe505Phe",
"transcript": "NM_006313.3",
"protein_id": "NP_006304.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 952,
"cds_start": 1515,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006313.3"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1515C>T",
"hgvs_p": "p.Phe505Phe",
"transcript": "ENST00000913305.1",
"protein_id": "ENSP00000583364.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 944,
"cds_start": 1515,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913305.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Phe534Phe",
"transcript": "ENST00000886868.1",
"protein_id": "ENSP00000556927.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 938,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886868.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1428C>T",
"hgvs_p": "p.Phe476Phe",
"transcript": "ENST00000957647.1",
"protein_id": "ENSP00000627706.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 923,
"cds_start": 1428,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957647.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Phe534Phe",
"transcript": "ENST00000957650.1",
"protein_id": "ENSP00000627709.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 897,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957650.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Phe447Phe",
"transcript": "ENST00000886869.1",
"protein_id": "ENSP00000556928.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 894,
"cds_start": 1341,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886869.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Phe443Phe",
"transcript": "ENST00000886867.1",
"protein_id": "ENSP00000556926.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 890,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886867.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1242C>T",
"hgvs_p": "p.Phe414Phe",
"transcript": "ENST00000957649.1",
"protein_id": "ENSP00000627708.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 861,
"cds_start": 1242,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957649.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1239C>T",
"hgvs_p": "p.Phe413Phe",
"transcript": "NM_001351159.2",
"protein_id": "NP_001338088.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 860,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351159.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.1035C>T",
"hgvs_p": "p.Phe345Phe",
"transcript": "ENST00000957646.1",
"protein_id": "ENSP00000627705.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 792,
"cds_start": 1035,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957646.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Phe285Phe",
"transcript": "NM_001351160.2",
"protein_id": "NP_001338089.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 732,
"cds_start": 855,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351160.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Phe201Phe",
"transcript": "NM_001351163.2",
"protein_id": "NP_001338092.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 648,
"cds_start": 603,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351163.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Phe201Phe",
"transcript": "NM_001351164.2",
"protein_id": "NP_001338093.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 648,
"cds_start": 603,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351164.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Phe201Phe",
"transcript": "NM_001351165.2",
"protein_id": "NP_001338094.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 648,
"cds_start": 603,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351165.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Phe201Phe",
"transcript": "NM_001351166.2",
"protein_id": "NP_001338095.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 648,
"cds_start": 603,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.960C>T",
"hgvs_p": null,
"transcript": "ENST00000549268.1",
"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": "retained_intron",
"feature": "ENST00000549268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.1613C>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": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.1613C>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": null,
"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": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.1464C>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": null,
"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": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.1526C>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": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"hgvs_c": "n.1672C>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147082.2"
}
],
"gene_symbol": "USP15",
"gene_hgnc_id": 12613,
"dbsnp": "rs370305930",
"frequency_reference_population": 0.00008370349,
"hom_count_reference_population": 0,
"allele_count_reference_population": 135,
"gnomad_exomes_af": 0.0000821368,
"gnomad_genomes_af": 0.0000987765,
"gnomad_exomes_ac": 120,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.31,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001252078.2",
"gene_symbol": "USP15",
"hgnc_id": 12613,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Phe534Phe"
}
],
"clinvar_disease": "USP15-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "USP15-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}