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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: 2-224481929-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224481929&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224481929,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001257198.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1992A>T",
"hgvs_p": "p.Gln664His",
"transcript": "NM_003590.5",
"protein_id": "NP_003581.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 768,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264414.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003590.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1992A>T",
"hgvs_p": "p.Gln664His",
"transcript": "ENST00000264414.9",
"protein_id": "ENSP00000264414.4",
"transcript_support_level": 1,
"aa_start": 664,
"aa_end": null,
"aa_length": 768,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003590.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264414.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1920A>T",
"hgvs_p": "p.Gln640His",
"transcript": "ENST00000409096.5",
"protein_id": "ENSP00000387200.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 744,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409096.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1920A>T",
"hgvs_p": "p.Gln640His",
"transcript": "ENST00000409777.5",
"protein_id": "ENSP00000386525.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 744,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409777.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.2010A>T",
"hgvs_p": "p.Gln670His",
"transcript": "NM_001257198.2",
"protein_id": "NP_001244127.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 774,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257198.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.2007A>T",
"hgvs_p": "p.Gln669His",
"transcript": "ENST00000967311.1",
"protein_id": "ENSP00000637370.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 773,
"cds_start": 2007,
"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": "ENST00000967311.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1986A>T",
"hgvs_p": "p.Gln662His",
"transcript": "ENST00000967315.1",
"protein_id": "ENSP00000637374.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 766,
"cds_start": 1986,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967315.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1878A>T",
"hgvs_p": "p.Gln626His",
"transcript": "ENST00000907241.1",
"protein_id": "ENSP00000577300.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 730,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907241.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1857A>T",
"hgvs_p": "p.Gln619His",
"transcript": "ENST00000927036.1",
"protein_id": "ENSP00000597095.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 723,
"cds_start": 1857,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927036.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1821A>T",
"hgvs_p": "p.Gln607His",
"transcript": "ENST00000927035.1",
"protein_id": "ENSP00000597094.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 711,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927035.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1794A>T",
"hgvs_p": "p.Gln598His",
"transcript": "NM_001257197.2",
"protein_id": "NP_001244126.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 702,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257197.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1794A>T",
"hgvs_p": "p.Gln598His",
"transcript": "ENST00000344951.8",
"protein_id": "ENSP00000343601.4",
"transcript_support_level": 2,
"aa_start": 598,
"aa_end": null,
"aa_length": 702,
"cds_start": 1794,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344951.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1680A>T",
"hgvs_p": "p.Gln560His",
"transcript": "ENST00000927037.1",
"protein_id": "ENSP00000597096.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 664,
"cds_start": 1680,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927037.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1623A>T",
"hgvs_p": "p.Gln541His",
"transcript": "ENST00000967314.1",
"protein_id": "ENSP00000637373.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 645,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967314.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1356A>T",
"hgvs_p": "p.Gln452His",
"transcript": "ENST00000927034.1",
"protein_id": "ENSP00000597093.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 556,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927034.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1164A>T",
"hgvs_p": "p.Gln388His",
"transcript": "ENST00000967310.1",
"protein_id": "ENSP00000637369.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 492,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967310.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.528A>T",
"hgvs_p": "p.Gln176His",
"transcript": "ENST00000967312.1",
"protein_id": "ENSP00000637371.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 280,
"cds_start": 528,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967312.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.414A>T",
"hgvs_p": "p.Gln138His",
"transcript": "ENST00000967313.1",
"protein_id": "ENSP00000637372.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 242,
"cds_start": 414,
"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": "ENST00000967313.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1959A>T",
"hgvs_p": "p.Gln653His",
"transcript": "XM_006712800.3",
"protein_id": "XP_006712863.2",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 757,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712800.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1950A>T",
"hgvs_p": "p.Gln650His",
"transcript": "XM_011511995.2",
"protein_id": "XP_011510297.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 754,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511995.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1800A>T",
"hgvs_p": "p.Gln600His",
"transcript": "XM_011511996.3",
"protein_id": "XP_011510298.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 704,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511996.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL3",
"gene_hgnc_id": 2553,
"hgvs_c": "c.1800A>T",
"hgvs_p": "p.Gln600His",
"transcript": "XM_047446024.1",
"protein_id": "XP_047301980.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 704,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "CUL3",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5625535249710083,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1518,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.819,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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_001257198.2",
"gene_symbol": "CUL3",
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"effects": [
"missense_variant"
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"inheritance_mode": "AD",
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"hgvs_p": "p.Gln670His"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}