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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: X-100686110-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=100686110&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 100686110,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001370162.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370165.1",
"protein_id": "NP_001357094.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372989.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370165.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000372989.6",
"protein_id": "ENSP00000362080.1",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370165.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372989.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000276141.10",
"protein_id": "ENSP00000276141.6",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276141.10"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370162.1",
"protein_id": "NP_001357091.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 676,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370162.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001129896.3",
"protein_id": "NP_001123368.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129896.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001174068.2",
"protein_id": "NP_001167539.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174068.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370160.1",
"protein_id": "NP_001357089.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370160.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370161.1",
"protein_id": "NP_001357090.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370161.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370163.1",
"protein_id": "NP_001357092.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370163.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370164.1",
"protein_id": "NP_001357093.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370164.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370166.1",
"protein_id": "NP_001357095.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370166.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370167.1",
"protein_id": "NP_001357096.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370167.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370168.1",
"protein_id": "NP_001357097.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370168.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_001370169.1",
"protein_id": "NP_001357098.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370169.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "NM_080737.3",
"protein_id": "NP_542775.2",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080737.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000263033.9",
"protein_id": "ENSP00000263033.5",
"transcript_support_level": 2,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263033.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000685623.1",
"protein_id": "ENSP00000509693.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685623.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000877173.1",
"protein_id": "ENSP00000547232.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877173.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000877174.1",
"protein_id": "ENSP00000547233.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877174.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000877175.1",
"protein_id": "ENSP00000547234.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877175.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000877176.1",
"protein_id": "ENSP00000547235.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877176.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "ENST00000877177.1",
"protein_id": "ENSP00000547236.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442650.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His",
"transcript": "XM_047442651.1",
"protein_id": "XP_047298607.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 671,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442651.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"hgvs_c": "c.*2196G>T",
"hgvs_p": null,
"transcript": "ENST00000372981.1",
"protein_id": "ENSP00000362072.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372981.1"
}
],
"gene_symbol": "SYTL4",
"gene_hgnc_id": 15588,
"dbsnp": "rs1227033878",
"frequency_reference_population": 0.00000413659,
"hom_count_reference_population": 2,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000364747,
"gnomad_genomes_af": 0.0000089226,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.711212158203125,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.352,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3453,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.84,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001370162.1",
"gene_symbol": "SYTL4",
"hgnc_id": 15588,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1329G>T",
"hgvs_p": "p.Gln443His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}