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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: 16-2499881-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2499881&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2499881,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001199107.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1253T>G",
"hgvs_p": "p.Phe418Cys",
"transcript": "NM_001199107.2",
"protein_id": "NP_001186036.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 559,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646147.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199107.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1253T>G",
"hgvs_p": "p.Phe418Cys",
"transcript": "ENST00000646147.1",
"protein_id": "ENSP00000494678.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 559,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001199107.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646147.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "ENST00000567020.7",
"protein_id": "ENSP00000454408.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 553,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567020.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260272",
"gene_hgnc_id": null,
"hgvs_c": "c.965+2768T>G",
"hgvs_p": null,
"transcript": "ENST00000564543.1",
"protein_id": "ENSP00000455547.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564543.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1253T>G",
"hgvs_p": "p.Phe418Cys",
"transcript": "ENST00000965028.1",
"protein_id": "ENSP00000635087.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 559,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965028.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "NM_020705.3",
"protein_id": "NP_065756.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 553,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020705.3"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "ENST00000627285.1",
"protein_id": "ENSP00000486121.1",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 553,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627285.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "ENST00000859879.1",
"protein_id": "ENSP00000529938.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 553,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859879.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "ENST00000859881.1",
"protein_id": "ENSP00000529940.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 553,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859881.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "ENST00000859880.1",
"protein_id": "ENSP00000529939.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859880.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "ENST00000965027.1",
"protein_id": "ENSP00000635086.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 551,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965027.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1220T>G",
"hgvs_p": "p.Phe407Cys",
"transcript": "ENST00000859878.1",
"protein_id": "ENSP00000529937.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 548,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859878.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1076T>G",
"hgvs_p": "p.Phe359Cys",
"transcript": "ENST00000859877.1",
"protein_id": "ENSP00000529936.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 500,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859877.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "ENST00000643767.1",
"protein_id": "ENSP00000494145.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 464,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643767.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1253T>G",
"hgvs_p": "p.Phe418Cys",
"transcript": "ENST00000562105.2",
"protein_id": "ENSP00000457896.2",
"transcript_support_level": 3,
"aa_start": 418,
"aa_end": null,
"aa_length": 454,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562105.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1253T>G",
"hgvs_p": "p.Phe418Cys",
"transcript": "XM_017023493.2",
"protein_id": "XP_016878982.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 559,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023493.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1253T>G",
"hgvs_p": "p.Phe418Cys",
"transcript": "XM_047434388.1",
"protein_id": "XP_047290344.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 559,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434388.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "XM_017023494.2",
"protein_id": "XP_016878983.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 553,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023494.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.1235T>G",
"hgvs_p": "p.Phe412Cys",
"transcript": "XM_017023495.2",
"protein_id": "XP_016878984.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 553,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023495.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "n.121T>G",
"hgvs_p": null,
"transcript": "ENST00000564879.2",
"protein_id": "ENSP00000457266.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000564879.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "n.1235T>G",
"hgvs_p": null,
"transcript": "ENST00000569874.2",
"protein_id": "ENSP00000455005.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569874.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "n.*211T>G",
"hgvs_p": null,
"transcript": "ENST00000630263.2",
"protein_id": "ENSP00000486835.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000630263.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "n.*211T>G",
"hgvs_p": null,
"transcript": "ENST00000630263.2",
"protein_id": "ENSP00000486835.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000630263.2"
}
],
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"dbsnp": "rs776176742",
"frequency_reference_population": 6.840563e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84056e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08934521675109863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.1047,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.448,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199107.2",
"gene_symbol": "TBC1D24",
"hgnc_id": 29203,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1253T>G",
"hgvs_p": "p.Phe418Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000564543.1",
"gene_symbol": "ENSG00000260272",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.965+2768T>G",
"hgvs_p": null
}
],
"clinvar_disease": " 1, member 24,Autosomal dominant nonsyndromic hearing loss 65,Caused by mutation in the TBC1 domain family,Developmental and epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal dominant nonsyndromic hearing loss 65;Caused by mutation in the TBC1 domain family, member 24;Developmental and epileptic encephalopathy, 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}