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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: 14-104712972-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104712972&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 104712972,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392634.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "NM_022489.4",
"protein_id": "NP_071934.3",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": "ENST00000392634.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "ENST00000392634.9",
"protein_id": "ENSP00000376410.4",
"transcript_support_level": 5,
"aa_start": 919,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 7623,
"mane_select": "NM_022489.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.2755C>G",
"hgvs_p": null,
"transcript": "ENST00000617571.5",
"protein_id": "ENSP00000483829.2",
"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": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2851C>G",
"hgvs_p": "p.Leu951Val",
"transcript": "ENST00000675207.1",
"protein_id": "ENSP00000502644.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2851,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 7732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "NM_001426862.1",
"protein_id": "NP_001413791.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 7650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2773C>G",
"hgvs_p": "p.Leu925Val",
"transcript": "ENST00000675980.1",
"protein_id": "ENSP00000502520.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2773,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "ENST00000675481.1",
"protein_id": "ENSP00000502723.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1250,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "NM_001426863.1",
"protein_id": "NP_001413792.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "NM_001426864.1",
"protein_id": "NP_001413793.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 3024,
"cdna_end": null,
"cdna_length": 7761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2731C>G",
"hgvs_p": "p.Leu911Val",
"transcript": "ENST00000675329.1",
"protein_id": "ENSP00000502287.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2731,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "NM_001031714.4",
"protein_id": "NP_001026884.3",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "NM_001426865.1",
"protein_id": "NP_001413794.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 7894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "ENST00000330634.11",
"protein_id": "ENSP00000376406.3",
"transcript_support_level": 5,
"aa_start": 919,
"aa_end": null,
"aa_length": 1240,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val",
"transcript": "ENST00000675638.1",
"protein_id": "ENSP00000501647.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1222,
"cds_start": 2755,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.2005C>G",
"hgvs_p": "p.Leu669Val",
"transcript": "ENST00000674991.1",
"protein_id": "ENSP00000502004.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 980,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2944,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Leu265Val",
"transcript": "ENST00000674631.1",
"protein_id": "ENSP00000502830.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 614,
"cds_start": 793,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.1159C>G",
"hgvs_p": null,
"transcript": "ENST00000252527.8",
"protein_id": "ENSP00000252527.8",
"transcript_support_level": 2,
"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": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.260C>G",
"hgvs_p": null,
"transcript": "ENST00000477497.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.*113C>G",
"hgvs_p": null,
"transcript": "ENST00000674520.1",
"protein_id": "ENSP00000502593.1",
"transcript_support_level": null,
"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": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.*428C>G",
"hgvs_p": null,
"transcript": "ENST00000674662.1",
"protein_id": "ENSP00000501895.1",
"transcript_support_level": null,
"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": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.2755C>G",
"hgvs_p": null,
"transcript": "ENST00000674757.1",
"protein_id": "ENSP00000502202.1",
"transcript_support_level": null,
"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": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.*2159C>G",
"hgvs_p": null,
"transcript": "ENST00000674822.1",
"protein_id": "ENSP00000501552.1",
"transcript_support_level": null,
"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": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"hgvs_c": "n.*428C>G",
"hgvs_p": null,
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{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 20,
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{
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"strand": true,
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"exon_count": 19,
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"gene_symbol": "INF2",
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"feature": null
},
{
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"strand": true,
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"downstream_gene_variant"
],
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"transcript": "ENST00000480763.2",
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"cds_end": null,
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"cdna_length": 581,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INF2",
"gene_hgnc_id": 23791,
"dbsnp": "rs377145979",
"frequency_reference_population": 0.00005457466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000541011,
"gnomad_genomes_af": 0.0000591172,
"gnomad_exomes_ac": 79,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30972135066986084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.1384,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.989,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000392634.9",
"gene_symbol": "INF2",
"hgnc_id": 23791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2755C>G",
"hgvs_p": "p.Leu919Val"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate E,Focal segmental glomerulosclerosis 5,INF2-related disorder,Inborn genetic diseases",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "Focal segmental glomerulosclerosis 5;Charcot-Marie-Tooth disease dominant intermediate E|INF2-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}