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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: 17-61683351-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61683351&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61683351,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000259008.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3695A>T",
"hgvs_p": "p.Lys1232Met",
"transcript": "NM_032043.3",
"protein_id": "NP_114432.2",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3970,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "ENST00000259008.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3695A>T",
"hgvs_p": "p.Lys1232Met",
"transcript": "ENST00000259008.7",
"protein_id": "ENSP00000259008.2",
"transcript_support_level": 1,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3970,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": "NM_032043.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3695A>T",
"hgvs_p": "p.Lys1232Met",
"transcript": "ENST00000682453.1",
"protein_id": "ENSP00000506943.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3808,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3695A>T",
"hgvs_p": "p.Lys1232Met",
"transcript": "ENST00000683039.1",
"protein_id": "ENSP00000508303.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3473A>T",
"hgvs_p": "p.Lys1158Met",
"transcript": "ENST00000682755.1",
"protein_id": "ENSP00000507660.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 7715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.2858A>T",
"hgvs_p": "p.Lys953Met",
"transcript": "ENST00000684584.1",
"protein_id": "ENSP00000508044.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 970,
"cds_start": 2858,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3755A>T",
"hgvs_p": "p.Lys1252Met",
"transcript": "XM_011525332.4",
"protein_id": "XP_011523634.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3755,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 4030,
"cdna_end": null,
"cdna_length": 8242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3755A>T",
"hgvs_p": "p.Lys1252Met",
"transcript": "XM_011525333.4",
"protein_id": "XP_011523635.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3755,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 4026,
"cdna_end": null,
"cdna_length": 8238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3755A>T",
"hgvs_p": "p.Lys1252Met",
"transcript": "XM_011525334.3",
"protein_id": "XP_011523636.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3755,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 5404,
"cdna_end": null,
"cdna_length": 9616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3695A>T",
"hgvs_p": "p.Lys1232Met",
"transcript": "XM_011525335.4",
"protein_id": "XP_011523637.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3970,
"cdna_end": null,
"cdna_length": 8182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3695A>T",
"hgvs_p": "p.Lys1232Met",
"transcript": "XM_047436891.1",
"protein_id": "XP_047292847.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3966,
"cdna_end": null,
"cdna_length": 8178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3695A>T",
"hgvs_p": "p.Lys1232Met",
"transcript": "XM_047436892.1",
"protein_id": "XP_047292848.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 5344,
"cdna_end": null,
"cdna_length": 9556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3635A>T",
"hgvs_p": "p.Lys1212Met",
"transcript": "XM_011525336.3",
"protein_id": "XP_011523638.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3635,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3910,
"cdna_end": null,
"cdna_length": 8122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3635A>T",
"hgvs_p": "p.Lys1212Met",
"transcript": "XM_047436893.1",
"protein_id": "XP_047292849.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3635,
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"cds_length": 3690,
"cdna_start": 3906,
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"cdna_length": 8118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.3635A>T",
"hgvs_p": "p.Lys1212Met",
"transcript": "XM_047436894.1",
"protein_id": "XP_047292850.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3635,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 5284,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.2435A>T",
"hgvs_p": null,
"transcript": "ENST00000682073.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.*3121A>T",
"hgvs_p": null,
"transcript": "ENST00000682477.1",
"protein_id": "ENSP00000507075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.9572A>T",
"hgvs_p": null,
"transcript": "ENST00000682589.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.*1110A>T",
"hgvs_p": null,
"transcript": "ENST00000683235.1",
"protein_id": "ENSP00000507646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5937,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.1825A>T",
"hgvs_p": null,
"transcript": "ENST00000683535.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.1941A>T",
"hgvs_p": null,
"transcript": "ENST00000684626.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "n.*1186A>T",
"hgvs_p": null,
"transcript": "ENST00000684769.1",
"protein_id": "ENSP00000507691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRIP1",
"gene_hgnc_id": 20473,
"hgvs_c": "c.*786A>T",
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"transcript": "ENST00000682989.1",
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{
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],
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"allele_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"inheritance_mode": "AD,AR",
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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
}