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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: 1-210161026-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=210161026&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 210161026,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367019.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Ala570Val",
"transcript": "NM_001146262.4",
"protein_id": "NP_001139734.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 574,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": "ENST00000367019.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Ala570Val",
"transcript": "ENST00000367019.6",
"protein_id": "ENSP00000355986.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 574,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": "NM_001146262.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Ala551Val",
"transcript": "ENST00000472886.5",
"protein_id": "ENSP00000418901.1",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 555,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Ala513Val",
"transcript": "ENST00000367015.5",
"protein_id": "ENSP00000355982.1",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 517,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1496C>T",
"hgvs_p": "p.Ala499Val",
"transcript": "ENST00000534859.2",
"protein_id": "ENSP00000442891.2",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 503,
"cds_start": 1496,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 3438,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.*469C>T",
"hgvs_p": null,
"transcript": "ENST00000399639.6",
"protein_id": "ENSP00000445837.2",
"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": 11880,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.*1569C>T",
"hgvs_p": null,
"transcript": "ENST00000637945.1",
"protein_id": "ENSP00000489671.1",
"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": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.*469C>T",
"hgvs_p": null,
"transcript": "ENST00000399639.6",
"protein_id": "ENSP00000445837.2",
"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": 11880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.*1569C>T",
"hgvs_p": null,
"transcript": "ENST00000637945.1",
"protein_id": "ENSP00000489671.1",
"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": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Ala860Val",
"transcript": "ENST00000637265.1",
"protein_id": "ENSP00000489897.1",
"transcript_support_level": 5,
"aa_start": 860,
"aa_end": null,
"aa_length": 864,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 3204,
"cdna_end": null,
"cdna_length": 13567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2522C>T",
"hgvs_p": "p.Ala841Val",
"transcript": "NM_001397544.1",
"protein_id": "NP_001384473.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 845,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 13908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2522C>T",
"hgvs_p": "p.Ala841Val",
"transcript": "NM_001397545.1",
"protein_id": "NP_001384474.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 845,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 14113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2522C>T",
"hgvs_p": "p.Ala841Val",
"transcript": "ENST00000699295.1",
"protein_id": "ENSP00000514275.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 845,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3808,
"cdna_end": null,
"cdna_length": 5288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ala615Val",
"transcript": "NM_001146261.4",
"protein_id": "NP_001139733.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 619,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 12167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1787C>T",
"hgvs_p": "p.Ala596Val",
"transcript": "NM_001146264.4",
"protein_id": "NP_001139736.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 600,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 12110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Ala551Val",
"transcript": "NM_153262.5",
"protein_id": "NP_694994.2",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 555,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 11989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Ala513Val",
"transcript": "NM_001256006.3",
"protein_id": "NP_001242935.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 517,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 12194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Ala513Val",
"transcript": "ENST00000537238.5",
"protein_id": "ENSP00000437423.1",
"transcript_support_level": 5,
"aa_start": 513,
"aa_end": null,
"aa_length": 517,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Ala860Val",
"transcript": "XM_006711262.3",
"protein_id": "XP_006711325.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 864,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2979,
"cdna_end": null,
"cdna_length": 13268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2522C>T",
"hgvs_p": "p.Ala841Val",
"transcript": "XM_017000931.2",
"protein_id": "XP_016856420.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 845,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2922,
"cdna_end": null,
"cdna_length": 13211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1595C>T",
"hgvs_p": "p.Ala532Val",
"transcript": "XM_017000933.3",
"protein_id": "XP_016856422.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 536,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 12128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1595C>T",
"hgvs_p": "p.Ala532Val",
"transcript": "XM_017000934.2",
"protein_id": "XP_016856423.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 536,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 11943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1595C>T",
"hgvs_p": "p.Ala532Val",
"transcript": "XM_047417067.1",
"protein_id": "XP_047273023.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 536,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 12192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Ala334Val",
"transcript": "XM_047417077.1",
"protein_id": "XP_047273033.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 338,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 11377,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.1634C>T",
"hgvs_p": null,
"transcript": "NR_027459.3",
"protein_id": null,
"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": 11997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"dbsnp": "rs970796538",
"frequency_reference_population": 0.000066932,
"hom_count_reference_population": 0,
"allele_count_reference_population": 108,
"gnomad_exomes_af": 0.000069794,
"gnomad_genomes_af": 0.0000394389,
"gnomad_exomes_ac": 102,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11398288607597351,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.095,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.07,
"phylop100way_prediction": "Benign",
"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": 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": "ENST00000367019.6",
"gene_symbol": "SYT14",
"hgnc_id": 23143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Ala570Val"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}