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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: 1-145897544-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=145897544&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 145897544,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_003637.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2542A>T",
"hgvs_p": "p.Arg848*",
"transcript": "NM_003637.5",
"protein_id": "NP_003628.2",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369304.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003637.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2542A>T",
"hgvs_p": "p.Arg848*",
"transcript": "ENST00000369304.8",
"protein_id": "ENSP00000358310.3",
"transcript_support_level": 1,
"aa_start": 848,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003637.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369304.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2113A>T",
"hgvs_p": "p.Arg705*",
"transcript": "ENST00000539363.2",
"protein_id": "ENSP00000439894.1",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2113,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539363.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2542A>T",
"hgvs_p": "p.Arg848*",
"transcript": "ENST00000889441.1",
"protein_id": "ENSP00000559500.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889441.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2542A>T",
"hgvs_p": "p.Arg848*",
"transcript": "ENST00000889439.1",
"protein_id": "ENSP00000559498.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889439.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2542A>T",
"hgvs_p": "p.Arg848*",
"transcript": "ENST00000965598.1",
"protein_id": "ENSP00000635657.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965598.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2299A>T",
"hgvs_p": "p.Arg767*",
"transcript": "ENST00000889440.1",
"protein_id": "ENSP00000559499.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889440.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2149A>T",
"hgvs_p": "p.Arg717*",
"transcript": "NM_001303040.2",
"protein_id": "NP_001289969.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303040.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2113A>T",
"hgvs_p": "p.Arg705*",
"transcript": "NM_001303041.2",
"protein_id": "NP_001289970.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2113,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303041.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2584A>T",
"hgvs_p": "p.Arg862*",
"transcript": "XM_017002622.1",
"protein_id": "XP_016858111.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002622.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2581A>T",
"hgvs_p": "p.Arg861*",
"transcript": "XM_017002623.1",
"protein_id": "XP_016858112.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2581,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002623.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2539A>T",
"hgvs_p": "p.Arg847*",
"transcript": "XM_047432895.1",
"protein_id": "XP_047288851.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2539,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432895.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2584A>T",
"hgvs_p": "p.Arg862*",
"transcript": "XM_017002624.1",
"protein_id": "XP_016858113.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002624.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2584A>T",
"hgvs_p": "p.Arg862*",
"transcript": "XM_017002625.1",
"protein_id": "XP_016858114.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002625.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2542A>T",
"hgvs_p": "p.Arg848*",
"transcript": "XM_047432904.1",
"protein_id": "XP_047288860.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432904.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2542A>T",
"hgvs_p": "p.Arg848*",
"transcript": "XM_047432906.1",
"protein_id": "XP_047288862.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432906.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2539A>T",
"hgvs_p": "p.Arg847*",
"transcript": "XM_047432909.1",
"protein_id": "XP_047288865.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2539,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432909.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2584A>T",
"hgvs_p": "p.Arg862*",
"transcript": "XM_047432910.1",
"protein_id": "XP_047288866.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2584,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432910.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2356A>T",
"hgvs_p": "p.Arg786*",
"transcript": "XM_047432915.1",
"protein_id": "XP_047288871.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432915.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2341A>T",
"hgvs_p": "p.Arg781*",
"transcript": "XM_017002626.1",
"protein_id": "XP_016858115.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1100,
"cds_start": 2341,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002626.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2542A>T",
"hgvs_p": "p.Arg848*",
"transcript": "XM_047432924.1",
"protein_id": "XP_047288880.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2542,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432924.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA10",
"gene_hgnc_id": 6135,
"hgvs_c": "c.2047A>T",
"hgvs_p": "p.Arg683*",
"transcript": "XM_011510083.2",
"protein_id": "XP_011508385.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2047,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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],
"gene_symbol": "ITGA10",
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"dbsnp": "rs1282023645",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.071,
"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_003637.5",
"gene_symbol": "ITGA10",
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"effects": [
"stop_gained"
],
"inheritance_mode": "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
}