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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: 5-176355593-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176355593&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 176355593,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020444.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "NM_020444.5",
"protein_id": "NP_065177.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 305,
"cds_start": 185,
"cds_end": null,
"cds_length": 918,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": "ENST00000298569.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000298569.9",
"protein_id": "ENSP00000298569.4",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 305,
"cds_start": 185,
"cds_end": null,
"cds_length": 918,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": "NM_020444.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "ENST00000510164.5",
"protein_id": "ENSP00000421061.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 305,
"cds_start": 185,
"cds_end": null,
"cds_length": 918,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "ENST00000393725.6",
"protein_id": "ENSP00000377326.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 286,
"cds_start": 128,
"cds_end": null,
"cds_length": 861,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.246+4218G>A",
"hgvs_p": null,
"transcript": "ENST00000393728.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"transcript": "NM_001079685.3",
"protein_id": "NP_001073153.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 305,
"cds_start": 185,
"cds_end": null,
"cds_length": 918,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "NM_001079684.3",
"protein_id": "NP_001073152.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 286,
"cds_start": 128,
"cds_end": null,
"cds_length": 861,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "NM_001287336.2",
"protein_id": "NP_001274265.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 286,
"cds_start": 128,
"cds_end": null,
"cds_length": 861,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "ENST00000614420.4",
"protein_id": "ENSP00000479627.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 286,
"cds_start": 128,
"cds_end": null,
"cds_length": 861,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "ENST00000506983.5",
"protein_id": "ENSP00000421746.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 94,
"cds_start": 128,
"cds_end": null,
"cds_length": 287,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "ENST00000503082.5",
"protein_id": "ENSP00000423741.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 69,
"cds_start": 128,
"cds_end": null,
"cds_length": 210,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "ENST00000504688.5",
"protein_id": "ENSP00000424906.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 64,
"cds_start": 128,
"cds_end": null,
"cds_length": 196,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43His",
"transcript": "XM_005265946.5",
"protein_id": "XP_005266003.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 286,
"cds_start": 128,
"cds_end": null,
"cds_length": 861,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2741,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.486G>A",
"hgvs_p": null,
"transcript": "ENST00000506668.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.-36-2845G>A",
"hgvs_p": null,
"transcript": "NM_001287335.2",
"protein_id": "NP_001274264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
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"cds_length": 675,
"cdna_start": null,
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"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.-36-2845G>A",
"hgvs_p": null,
"transcript": "ENST00000620366.4",
"protein_id": "ENSP00000477518.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.28+3888G>A",
"hgvs_p": null,
"transcript": "ENST00000533553.5",
"protein_id": "ENSP00000433506.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251414",
"gene_hgnc_id": null,
"hgvs_c": "n.357-404C>T",
"hgvs_p": null,
"transcript": "ENST00000512934.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.207-4861G>A",
"hgvs_p": null,
"transcript": "NR_109796.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.293+3888G>A",
"hgvs_p": null,
"transcript": "NR_109797.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.314+4218G>A",
"hgvs_p": null,
"transcript": "NR_109798.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.401+3888G>A",
"hgvs_p": null,
"transcript": "NR_109799.1",
"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": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.314+4218G>A",
"hgvs_p": null,
"transcript": "NR_109800.1",
"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": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
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],
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"transcript": "XM_017009651.2",
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"cds_start": -4,
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"cdna_length": 2543,
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},
{
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"protein_coding": true,
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"intron_variant"
],
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"exon_count": 6,
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"transcript": "XM_047417401.1",
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"aa_end": null,
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},
{
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"intron_variant"
],
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "KIAA1191",
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"transcript": "XM_047417402.1",
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"cds_end": null,
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"cdna_length": 2318,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "KIAA1191",
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"hgvs_c": "c.-2738G>A",
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"transcript": "XM_047417400.1",
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"cds_end": null,
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"cdna_length": 4779,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"dbsnp": "rs763170155",
"frequency_reference_population": 0.000016140346,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000150817,
"gnomad_genomes_af": 0.0000262905,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30518782138824463,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.258,
"revel_prediction": "Benign",
"alphamissense_score": 0.1245,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.659,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_020444.5",
"gene_symbol": "KIAA1191",
"hgnc_id": 29209,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000512934.1",
"gene_symbol": "ENSG00000251414",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.357-404C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}