← 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: 6-158763446-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158763446&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158763446,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001242394.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "NM_001242394.2",
"protein_id": "NP_001229323.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": "ENST00000611299.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "ENST00000611299.5",
"protein_id": "ENSP00000483936.1",
"transcript_support_level": 5,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": "NM_001242394.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "NM_001242384.2",
"protein_id": "NP_001229313.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "ENST00000360448.8",
"protein_id": "ENSP00000353631.4",
"transcript_support_level": 5,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "NM_001009991.4",
"protein_id": "NP_001009991.2",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "NM_001242395.2",
"protein_id": "NP_001229324.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "ENST00000367081.7",
"protein_id": "ENSP00000356048.4",
"transcript_support_level": 5,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "NM_001318745.2",
"protein_id": "NP_001305674.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 404,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "XM_006715606.4",
"protein_id": "XP_006715669.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "XM_011536254.3",
"protein_id": "XP_011534556.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "XM_047419549.1",
"protein_id": "XP_047275505.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2251,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "XM_047419550.1",
"protein_id": "XP_047275506.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "XM_047419551.1",
"protein_id": "XP_047275507.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "XM_047419552.1",
"protein_id": "XP_047275508.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile",
"transcript": "XM_047419553.1",
"protein_id": "XP_047275509.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 610,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 3775,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "XM_047419554.1",
"protein_id": "XP_047275510.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "XM_047419555.1",
"protein_id": "XP_047275511.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "XM_047419556.1",
"protein_id": "XP_047275512.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "XM_047419557.1",
"protein_id": "XP_047275513.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "XM_047419558.1",
"protein_id": "XP_047275514.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 542,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Val353Ile",
"transcript": "XM_011536255.3",
"protein_id": "XP_011534557.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 409,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 3548,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "XM_005267222.5",
"protein_id": "XP_005267279.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 404,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "XM_006715611.4",
"protein_id": "XP_006715674.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 404,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "XM_017011496.2",
"protein_id": "XP_016866985.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 404,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "XM_047419559.1",
"protein_id": "XP_047275515.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 404,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "XM_047419560.1",
"protein_id": "XP_047275516.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 404,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Val348Ile",
"transcript": "XM_047419561.1",
"protein_id": "XP_047275517.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 404,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "SYTL3",
"gene_hgnc_id": 15587,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Val325Ile",
"transcript": "XM_047419562.1",
"protein_id": "XP_047275518.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 381,
"cds_start": 973,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYTL3",
"gene_hgnc_id": 15587,
"dbsnp": "rs774693205",
"frequency_reference_population": 0.0000020521857,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205219,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34144407510757446,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.254,
"revel_prediction": "Benign",
"alphamissense_score": 0.0897,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.251,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001242394.2",
"gene_symbol": "SYTL3",
"hgnc_id": 15587,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Val554Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}