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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: 4-142123360-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=142123360&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 142123360,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001101669.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001101669.3",
"protein_id": "NP_001095139.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 924,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "ENST00000262992.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "ENST00000262992.9",
"protein_id": "ENSP00000262992.4",
"transcript_support_level": 5,
"aa_start": 650,
"aa_end": null,
"aa_length": 924,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "NM_001101669.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "ENST00000508116.5",
"protein_id": "ENSP00000423954.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 924,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "ENST00000513000.5",
"protein_id": "ENSP00000425487.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 924,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2383,
"cdna_end": null,
"cdna_length": 8831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "ENST00000510812.5",
"protein_id": "ENSP00000427250.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 816,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2452,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001331040.1",
"protein_id": "NP_001317969.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 938,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001385335.1",
"protein_id": "NP_001372264.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 938,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "ENST00000509777.5",
"protein_id": "ENSP00000422793.1",
"transcript_support_level": 5,
"aa_start": 650,
"aa_end": null,
"aa_length": 938,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1976C>T",
"hgvs_p": "p.Pro659Leu",
"transcript": "NM_001385339.1",
"protein_id": "NP_001372268.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 933,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 8913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1976C>T",
"hgvs_p": "p.Pro659Leu",
"transcript": "NM_001385343.1",
"protein_id": "NP_001372272.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 933,
"cds_start": 1976,
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"cds_length": 2802,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 8810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001385334.1",
"protein_id": "NP_001372263.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 924,
"cds_start": 1949,
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"cds_length": 2775,
"cdna_start": 2400,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001385336.1",
"protein_id": "NP_001372265.1",
"transcript_support_level": null,
"aa_start": 650,
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"cds_start": 1949,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001385338.1",
"protein_id": "NP_001372267.1",
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"cds_start": 1949,
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"cdna_start": 2438,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
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"transcript": "NM_001385341.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001385342.1",
"protein_id": "NP_001372271.1",
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"aa_start": 650,
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"cdna_start": 2271,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001385344.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 21,
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"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_003866.3",
"protein_id": "NP_003857.2",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu",
"transcript": "NM_001385347.1",
"protein_id": "NP_001372276.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": 19,
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"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1949C>T",
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"transcript": "NM_001385348.1",
"protein_id": "NP_001372277.1",
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},
{
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"strand": false,
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],
"exon_rank": 13,
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"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Pro521Leu",
"transcript": "NM_001385460.1",
"protein_id": "NP_001372389.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "INPP4B",
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"hgvs_c": "c.1544C>T",
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"transcript": "NM_001385351.1",
"protein_id": "NP_001372280.1",
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"cdna_start": 2085,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Pro465Leu",
"transcript": "NM_001385459.1",
"protein_id": "NP_001372388.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 753,
"cds_start": 1394,
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"cdna_start": 1594,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
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"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1165+22480C>T",
"hgvs_p": null,
"transcript": "NM_001385454.1",
"protein_id": "NP_001372383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"dbsnp": "rs755512915",
"frequency_reference_population": 0.0000027384956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027385,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2974507808685303,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.189,
"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_001101669.3",
"gene_symbol": "INPP4B",
"hgnc_id": 6075,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Pro650Leu"
}
],
"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
}