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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: 4-142122201-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=142122201&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 142122201,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001101669.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001101669.3",
"protein_id": "NP_001095139.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "ENST00000262992.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "ENST00000262992.9",
"protein_id": "ENSP00000262992.4",
"transcript_support_level": 5,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 8743,
"mane_select": "NM_001101669.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "ENST00000508116.5",
"protein_id": "ENSP00000423954.1",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "ENST00000513000.5",
"protein_id": "ENSP00000425487.1",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2496,
"cdna_end": null,
"cdna_length": 8831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "ENST00000510812.5",
"protein_id": "ENSP00000427250.1",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 816,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2452,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001331040.1",
"protein_id": "NP_001317969.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 938,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385335.1",
"protein_id": "NP_001372264.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 938,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "ENST00000509777.5",
"protein_id": "ENSP00000422793.1",
"transcript_support_level": 5,
"aa_start": 688,
"aa_end": null,
"aa_length": 938,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Asp697Asn",
"transcript": "NM_001385339.1",
"protein_id": "NP_001372268.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 933,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 8913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2089G>A",
"hgvs_p": "p.Asp697Asn",
"transcript": "NM_001385343.1",
"protein_id": "NP_001372272.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 933,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 8810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385334.1",
"protein_id": "NP_001372263.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 8848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385336.1",
"protein_id": "NP_001372265.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
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"cdna_start": 2571,
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"cdna_length": 8906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385338.1",
"protein_id": "NP_001372267.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
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"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 8886,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385341.1",
"protein_id": "NP_001372270.1",
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"cdna_start": 2448,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385342.1",
"protein_id": "NP_001372271.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
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"cdna_start": 2384,
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"cdna_length": 8719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385344.1",
"protein_id": "NP_001372273.1",
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"cds_start": 2062,
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"cdna_start": 2612,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_003866.3",
"protein_id": "NP_003857.2",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 924,
"cds_start": 2062,
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"cdna_start": 2741,
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"cdna_length": 9076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385347.1",
"protein_id": "NP_001372276.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 920,
"cds_start": 2062,
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"cdna_start": 2448,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
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"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn",
"transcript": "NM_001385348.1",
"protein_id": "NP_001372277.1",
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"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Asp559Asn",
"transcript": "NM_001385460.1",
"protein_id": "NP_001372389.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 809,
"cds_start": 1675,
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"cdna_start": 1772,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
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"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1657G>A",
"hgvs_p": "p.Asp553Asn",
"transcript": "NM_001385351.1",
"protein_id": "NP_001372280.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 789,
"cds_start": 1657,
"cds_end": null,
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"cdna_start": 2198,
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"cdna_length": 8533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4B",
"gene_hgnc_id": 6075,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Asp503Asn",
"transcript": "NM_001385459.1",
"protein_id": "NP_001372388.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 753,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"protein_id": "NP_001372269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": -4,
"cds_end": null,
"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+23639G>A",
"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": null,
"frequency_reference_population": 0.000004110721,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000411072,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7438632845878601,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.371,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6042,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.264,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 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_001101669.3",
"gene_symbol": "INPP4B",
"hgnc_id": 6075,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Asp688Asn"
}
],
"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
}