← Back to variant description
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: 1-210161027-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=210161027&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 210161027,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000367019.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1710G>A",
"hgvs_p": "p.Ala570Ala",
"transcript": "NM_001146262.4",
"protein_id": "NP_001139734.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 574,
"cds_start": 1710,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": "ENST00000367019.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1710G>A",
"hgvs_p": "p.Ala570Ala",
"transcript": "ENST00000367019.6",
"protein_id": "ENSP00000355986.1",
"transcript_support_level": 1,
"aa_start": 570,
"aa_end": null,
"aa_length": 574,
"cds_start": 1710,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": "NM_001146262.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1653G>A",
"hgvs_p": "p.Ala551Ala",
"transcript": "ENST00000472886.5",
"protein_id": "ENSP00000418901.1",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 555,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1539G>A",
"hgvs_p": "p.Ala513Ala",
"transcript": "ENST00000367015.5",
"protein_id": "ENSP00000355982.1",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 517,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1497G>A",
"hgvs_p": "p.Ala499Ala",
"transcript": "ENST00000534859.2",
"protein_id": "ENSP00000442891.2",
"transcript_support_level": 1,
"aa_start": 499,
"aa_end": null,
"aa_length": 503,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1498,
"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.*470G>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": 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.*1570G>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": 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.*470G>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": 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.*1570G>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": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.2580G>A",
"hgvs_p": "p.Ala860Ala",
"transcript": "ENST00000637265.1",
"protein_id": "ENSP00000489897.1",
"transcript_support_level": 5,
"aa_start": 860,
"aa_end": null,
"aa_length": 864,
"cds_start": 2580,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 3205,
"cdna_end": null,
"cdna_length": 13567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.2523G>A",
"hgvs_p": "p.Ala841Ala",
"transcript": "NM_001397544.1",
"protein_id": "NP_001384473.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 845,
"cds_start": 2523,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3620,
"cdna_end": null,
"cdna_length": 13908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.2523G>A",
"hgvs_p": "p.Ala841Ala",
"transcript": "NM_001397545.1",
"protein_id": "NP_001384474.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 845,
"cds_start": 2523,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3825,
"cdna_end": null,
"cdna_length": 14113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.2523G>A",
"hgvs_p": "p.Ala841Ala",
"transcript": "ENST00000699295.1",
"protein_id": "ENSP00000514275.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 845,
"cds_start": 2523,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3809,
"cdna_end": null,
"cdna_length": 5288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1845G>A",
"hgvs_p": "p.Ala615Ala",
"transcript": "NM_001146261.4",
"protein_id": "NP_001139733.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 619,
"cds_start": 1845,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 12167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1788G>A",
"hgvs_p": "p.Ala596Ala",
"transcript": "NM_001146264.4",
"protein_id": "NP_001139736.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 600,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 12110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1653G>A",
"hgvs_p": "p.Ala551Ala",
"transcript": "NM_153262.5",
"protein_id": "NP_694994.2",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 555,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 11989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1539G>A",
"hgvs_p": "p.Ala513Ala",
"transcript": "NM_001256006.3",
"protein_id": "NP_001242935.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 517,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 12194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1539G>A",
"hgvs_p": "p.Ala513Ala",
"transcript": "ENST00000537238.5",
"protein_id": "ENSP00000437423.1",
"transcript_support_level": 5,
"aa_start": 513,
"aa_end": null,
"aa_length": 517,
"cds_start": 1539,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.2580G>A",
"hgvs_p": "p.Ala860Ala",
"transcript": "XM_006711262.3",
"protein_id": "XP_006711325.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 864,
"cds_start": 2580,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 13268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.2523G>A",
"hgvs_p": "p.Ala841Ala",
"transcript": "XM_017000931.2",
"protein_id": "XP_016856420.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 845,
"cds_start": 2523,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 13211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1596G>A",
"hgvs_p": "p.Ala532Ala",
"transcript": "XM_017000933.3",
"protein_id": "XP_016856422.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 536,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 12128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1596G>A",
"hgvs_p": "p.Ala532Ala",
"transcript": "XM_017000934.2",
"protein_id": "XP_016856423.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 536,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 11943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1596G>A",
"hgvs_p": "p.Ala532Ala",
"transcript": "XM_047417067.1",
"protein_id": "XP_047273023.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 536,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 12192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1002G>A",
"hgvs_p": "p.Ala334Ala",
"transcript": "XM_047417077.1",
"protein_id": "XP_047273033.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 338,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1089,
"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.1635G>A",
"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": "rs371789098",
"frequency_reference_population": 0.00013571767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 219,
"gnomad_exomes_af": 0.000138224,
"gnomad_genomes_af": 0.000111657,
"gnomad_exomes_ac": 202,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.618,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000367019.6",
"gene_symbol": "SYT14",
"hgnc_id": 23143,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1710G>A",
"hgvs_p": "p.Ala570Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}