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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: 1-210155872-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=210155872&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 210155872,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367019.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"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": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1316G>A",
"hgvs_p": "p.Gly439Asp",
"transcript": "NM_001146262.4",
"protein_id": "NP_001139734.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 574,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": "ENST00000367019.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"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": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1316G>A",
"hgvs_p": "p.Gly439Asp",
"transcript": "ENST00000367019.6",
"protein_id": "ENSP00000355986.1",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 574,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": "NM_001146262.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1316G>A",
"hgvs_p": "p.Gly439Asp",
"transcript": "ENST00000472886.5",
"protein_id": "ENSP00000418901.1",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 555,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "ENST00000367015.5",
"protein_id": "ENSP00000355982.1",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 517,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"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": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Gly361Asp",
"transcript": "ENST00000534859.2",
"protein_id": "ENSP00000442891.2",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 503,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1083,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.*133G>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.*1176G>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.*133G>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "n.*1176G>A",
"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": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Gly729Asp",
"transcript": "ENST00000637265.1",
"protein_id": "ENSP00000489897.1",
"transcript_support_level": 5,
"aa_start": 729,
"aa_end": null,
"aa_length": 864,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 13567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Gly729Asp",
"transcript": "NM_001397544.1",
"protein_id": "NP_001384473.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 845,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3283,
"cdna_end": null,
"cdna_length": 13908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Gly729Asp",
"transcript": "NM_001397545.1",
"protein_id": "NP_001384474.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 845,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 14113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Gly729Asp",
"transcript": "ENST00000699295.1",
"protein_id": "ENSP00000514275.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 845,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3472,
"cdna_end": null,
"cdna_length": 5288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Gly484Asp",
"transcript": "NM_001146261.4",
"protein_id": "NP_001139733.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 619,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 12167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Gly484Asp",
"transcript": "NM_001146264.4",
"protein_id": "NP_001139736.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 600,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 12110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1316G>A",
"hgvs_p": "p.Gly439Asp",
"transcript": "NM_153262.5",
"protein_id": "NP_694994.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 555,
"cds_start": 1316,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 11989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "NM_001256006.3",
"protein_id": "NP_001242935.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 517,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 12194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "ENST00000537238.5",
"protein_id": "ENSP00000437423.1",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 517,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Gly729Asp",
"transcript": "XM_006711262.3",
"protein_id": "XP_006711325.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 864,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 13268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.2186G>A",
"hgvs_p": "p.Gly729Asp",
"transcript": "XM_017000931.2",
"protein_id": "XP_016856420.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 845,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 13211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "XM_017000933.3",
"protein_id": "XP_016856422.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 536,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 12128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "XM_017000934.2",
"protein_id": "XP_016856423.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 536,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 11943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "SYT14",
"gene_hgnc_id": 23143,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Gly401Asp",
"transcript": "XM_047417067.1",
"protein_id": "XP_047273023.1",
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},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 5,
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"gene_symbol": "SYT14",
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"hgvs_c": "c.608G>A",
"hgvs_p": "p.Gly203Asp",
"transcript": "XM_047417077.1",
"protein_id": "XP_047273033.1",
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"aa_start": 203,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SYT14",
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"hgvs_c": "n.1298G>A",
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"transcript": "NR_027459.3",
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 11997,
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"feature": null
}
],
"gene_symbol": "SYT14",
"gene_hgnc_id": 23143,
"dbsnp": "rs387907033",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9590737819671631,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.829,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.519,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000367019.6",
"gene_symbol": "SYT14",
"hgnc_id": 23143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1316G>A",
"hgvs_p": "p.Gly439Asp"
}
],
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 11",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal recessive spinocerebellar ataxia 11",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}