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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: 15-43403684-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43403684&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43403684,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001286414.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1733T>C",
"hgvs_p": "p.Val578Ala",
"transcript": "NM_014444.5",
"protein_id": "NP_055259.2",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 666,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000564079.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014444.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1733T>C",
"hgvs_p": "p.Val578Ala",
"transcript": "ENST00000564079.6",
"protein_id": "ENSP00000456648.2",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 666,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014444.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564079.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1736T>C",
"hgvs_p": "p.Val579Ala",
"transcript": "ENST00000260383.11",
"protein_id": "ENSP00000260383.7",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 667,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260383.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.*3699A>G",
"hgvs_p": null,
"transcript": "NM_001141980.3",
"protein_id": "NP_001135452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": null,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382044.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141980.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.*3699A>G",
"hgvs_p": null,
"transcript": "ENST00000382044.9",
"protein_id": "ENSP00000371475.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": null,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001141980.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382044.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "n.*362T>C",
"hgvs_p": null,
"transcript": "ENST00000561691.5",
"protein_id": "ENSP00000455474.1",
"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": "ENST00000561691.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "n.*362T>C",
"hgvs_p": null,
"transcript": "ENST00000561691.5",
"protein_id": "ENSP00000455474.1",
"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": "ENST00000561691.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1736T>C",
"hgvs_p": "p.Val579Ala",
"transcript": "NM_001286414.3",
"protein_id": "NP_001273343.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 667,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286414.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1727T>C",
"hgvs_p": "p.Val576Ala",
"transcript": "ENST00000852301.1",
"protein_id": "ENSP00000522360.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 664,
"cds_start": 1727,
"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": "ENST00000852301.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1715T>C",
"hgvs_p": "p.Val572Ala",
"transcript": "ENST00000966488.1",
"protein_id": "ENSP00000636547.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966488.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1712T>C",
"hgvs_p": "p.Val571Ala",
"transcript": "ENST00000966489.1",
"protein_id": "ENSP00000636548.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 659,
"cds_start": 1712,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966489.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1700T>C",
"hgvs_p": "p.Val567Ala",
"transcript": "ENST00000938500.1",
"protein_id": "ENSP00000608559.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 655,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938500.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1685T>C",
"hgvs_p": "p.Val562Ala",
"transcript": "ENST00000852303.1",
"protein_id": "ENSP00000522362.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 650,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852303.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"transcript": "ENST00000852302.1",
"protein_id": "ENSP00000522361.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 649,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852302.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1601T>C",
"hgvs_p": "p.Val534Ala",
"transcript": "ENST00000852304.1",
"protein_id": "ENSP00000522363.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 622,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852304.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Val533Ala",
"transcript": "ENST00000966490.1",
"protein_id": "ENSP00000636549.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 621,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966490.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1394T>C",
"hgvs_p": "p.Val465Ala",
"transcript": "ENST00000938499.1",
"protein_id": "ENSP00000608558.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 553,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938499.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.47T>C",
"hgvs_p": "p.Val16Ala",
"transcript": "ENST00000565548.1",
"protein_id": "ENSP00000456550.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 105,
"cds_start": 47,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565548.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1685T>C",
"hgvs_p": "p.Val562Ala",
"transcript": "XM_047432390.1",
"protein_id": "XP_047288346.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 650,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432390.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"transcript": "XM_047432391.1",
"protein_id": "XP_047288347.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 649,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432391.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1328T>C",
"hgvs_p": "p.Val443Ala",
"transcript": "XM_011521455.3",
"protein_id": "XP_011519757.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 531,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521455.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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{
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{
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{
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"feature": "NM_001355001.2"
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{
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{
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{
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],
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{
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{
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"transcript": "XM_017022078.3",
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{
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"non_coding_transcript_exon_variant"
],
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{
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"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "TUBGCP4",
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"transcript": "ENST00000566251.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566251.1"
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],
"gene_symbol": "TUBGCP4",
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"dbsnp": "rs543973163",
"frequency_reference_population": 0.000008697619,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000823343,
"gnomad_genomes_af": 0.0000131437,
"gnomad_exomes_ac": 12,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39884153008461,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3499999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.8635,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.205,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.292986726870316,
"dbscsnv_ada_prediction": "Benign",
"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_001286414.3",
"gene_symbol": "TUBGCP4",
"hgnc_id": 16691,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1736T>C",
"hgvs_p": "p.Val579Ala"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001141980.3",
"gene_symbol": "TP53BP1",
"hgnc_id": 11999,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*3699A>G",
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}
],
"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
}