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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: 2-98539581-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=98539581&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 98539581,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001134224.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "NM_001134225.2",
"protein_id": "NP_001127697.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 972,
"cds_start": 724,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409851.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134225.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000409851.8",
"protein_id": "ENSP00000386777.4",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 972,
"cds_start": 724,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134225.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409851.8"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "NM_001351425.2",
"protein_id": "NP_001338354.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 939,
"cds_start": 724,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000715854.1",
"biotype": "protein_coding",
"feature": "NM_001351425.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000715854.1",
"protein_id": "ENSP00000520526.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 939,
"cds_start": 724,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001351425.2",
"biotype": "protein_coding",
"feature": "ENST00000715854.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000523221.2",
"protein_id": "ENSP00000427722.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 977,
"cds_start": 724,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523221.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000409540.7",
"protein_id": "ENSP00000387294.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 954,
"cds_start": 724,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409540.7"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000409016.8",
"protein_id": "ENSP00000386704.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 938,
"cds_start": 724,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409016.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.231+6125C>A",
"hgvs_p": null,
"transcript": "ENST00000409463.5",
"protein_id": "ENSP00000386329.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409463.5"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000715853.1",
"protein_id": "ENSP00000520525.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 978,
"cds_start": 724,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715853.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "NM_001134224.2",
"protein_id": "NP_001127696.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 977,
"cds_start": 724,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134224.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000920521.1",
"protein_id": "ENSP00000590580.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 972,
"cds_start": 724,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920521.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000941124.1",
"protein_id": "ENSP00000611183.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 972,
"cds_start": 724,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941124.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000941127.1",
"protein_id": "ENSP00000611186.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 971,
"cds_start": 724,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941127.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000941125.1",
"protein_id": "ENSP00000611184.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 967,
"cds_start": 724,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941125.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000706935.1",
"protein_id": "ENSP00000516656.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 962,
"cds_start": 724,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706935.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000851857.1",
"protein_id": "ENSP00000521916.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 961,
"cds_start": 724,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851857.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.His227Asn",
"transcript": "ENST00000920519.1",
"protein_id": "ENSP00000590578.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 957,
"cds_start": 679,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920519.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "NM_001351424.1",
"protein_id": "NP_001338353.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 955,
"cds_start": 724,
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"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351424.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "NM_001566.2",
"protein_id": "NP_001557.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 954,
"cds_start": 724,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001566.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000920520.1",
"protein_id": "ENSP00000590579.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
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"cds_start": 724,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920520.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "NM_001351426.2",
"protein_id": "NP_001338355.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 939,
"cds_start": 724,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351426.2"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn",
"transcript": "ENST00000941128.1",
"protein_id": "ENSP00000611187.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 939,
"cds_start": 724,
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{
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},
{
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},
{
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},
{
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],
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"feature": "XM_011511125.3"
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{
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"strand": true,
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],
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"biotype": "pseudogene",
"feature": "XR_007074203.1"
},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "INPP4A",
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"transcript": "XR_922915.3",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_922915.3"
}
],
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"dbsnp": null,
"frequency_reference_population": 0.0000027395797,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273958,
"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": 0.6999853849411011,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.3301,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.726,
"phylop100way_prediction": "Pathogenic",
"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": 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_001134224.2",
"gene_symbol": "INPP4A",
"hgnc_id": 6074,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.724C>A",
"hgvs_p": "p.His242Asn"
}
],
"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
}