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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: 11-1835967-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1835967&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1835967,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001290332.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "NM_001394072.1",
"protein_id": "NP_001381001.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 387,
"cds_start": 340,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341958.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394072.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "ENST00000341958.4",
"protein_id": "ENSP00000343691.3",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 387,
"cds_start": 340,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394072.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341958.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Asp126Asn",
"transcript": "ENST00000381978.7",
"protein_id": "ENSP00000371406.3",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 399,
"cds_start": 376,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381978.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.2176G>A",
"hgvs_p": null,
"transcript": "ENST00000490707.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490707.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Asp129Asn",
"transcript": "NM_001290332.2",
"protein_id": "NP_001277261.2",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 402,
"cds_start": 385,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290332.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "NM_001290333.2",
"protein_id": "NP_001277262.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 401,
"cds_start": 382,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290333.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "NM_138567.5",
"protein_id": "NP_612634.4",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 401,
"cds_start": 382,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138567.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "ENST00000381968.7",
"protein_id": "ENSP00000371394.3",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 401,
"cds_start": 382,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381968.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.379G>A",
"hgvs_p": "p.Asp127Asn",
"transcript": "NM_001290334.2",
"protein_id": "NP_001277263.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 400,
"cds_start": 379,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290334.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "ENST00000852977.1",
"protein_id": "ENSP00000523036.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 387,
"cds_start": 340,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852977.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "ENST00000852978.1",
"protein_id": "ENSP00000523037.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 387,
"cds_start": 340,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852978.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "ENST00000852979.1",
"protein_id": "ENSP00000523038.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 387,
"cds_start": 340,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852979.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "ENST00000970785.1",
"protein_id": "ENSP00000640844.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 387,
"cds_start": 340,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970785.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "ENST00000970786.1",
"protein_id": "ENSP00000640845.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 331,
"cds_start": 340,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970786.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "XM_011520455.2",
"protein_id": "XP_011518757.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 387,
"cds_start": 340,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520455.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "XM_017018528.2",
"protein_id": "XP_016874017.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 387,
"cds_start": 340,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018528.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Asp128Asn",
"transcript": "XM_047427845.1",
"protein_id": "XP_047283801.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 294,
"cds_start": 382,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427845.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Asp114Asn",
"transcript": "XM_011520456.3",
"protein_id": "XP_011518758.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 280,
"cds_start": 340,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520456.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.357G>A",
"hgvs_p": null,
"transcript": "ENST00000424556.2",
"protein_id": "ENSP00000405850.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424556.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.478G>A",
"hgvs_p": null,
"transcript": "ENST00000464897.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464897.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.382G>A",
"hgvs_p": null,
"transcript": "ENST00000475245.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.660G>A",
"hgvs_p": null,
"transcript": "ENST00000479089.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479089.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.1162G>A",
"hgvs_p": null,
"transcript": "ENST00000479276.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479276.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.139G>A",
"hgvs_p": null,
"transcript": "ENST00000483280.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.*33G>A",
"hgvs_p": null,
"transcript": "ENST00000430303.5",
"protein_id": "ENSP00000392469.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430303.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "c.*41G>A",
"hgvs_p": null,
"transcript": "ENST00000417052.5",
"protein_id": "ENSP00000387678.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417052.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"hgvs_c": "n.-62G>A",
"hgvs_p": null,
"transcript": "ENST00000494431.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494431.1"
}
],
"gene_symbol": "SYT8",
"gene_hgnc_id": 19264,
"dbsnp": "rs886561439",
"frequency_reference_population": 0.000005505827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000550583,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22120127081871033,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.1133,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.307,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "NM_001290332.2",
"gene_symbol": "SYT8",
"hgnc_id": 19264,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Asp129Asn"
}
],
"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
}