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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: 16-19183855-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19183855&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19183855,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016524.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "NM_016524.4",
"protein_id": "NP_057608.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 474,
"cds_start": 659,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355377.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016524.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000355377.7",
"protein_id": "ENSP00000347538.2",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 474,
"cds_start": 659,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016524.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355377.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "ENST00000562034.5",
"protein_id": "ENSP00000456252.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 413,
"cds_start": 476,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562034.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000971661.1",
"protein_id": "ENSP00000641720.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 472,
"cds_start": 659,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971661.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Ser216Leu",
"transcript": "NM_001308157.2",
"protein_id": "NP_001295086.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 470,
"cds_start": 647,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308157.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Ser216Leu",
"transcript": "ENST00000562711.6",
"protein_id": "ENSP00000454721.2",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 470,
"cds_start": 647,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562711.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "NM_001330509.2",
"protein_id": "NP_001317438.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 413,
"cds_start": 476,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330509.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "NM_001410903.1",
"protein_id": "NP_001397832.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 392,
"cds_start": 476,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410903.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "ENST00000568115.5",
"protein_id": "ENSP00000456009.1",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 392,
"cds_start": 476,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568115.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "XM_047434203.1",
"protein_id": "XP_047290159.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 500,
"cds_start": 737,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434203.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Ser227Leu",
"transcript": "XM_011545866.4",
"protein_id": "XP_011544168.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 481,
"cds_start": 680,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545866.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Leu",
"transcript": "XM_047434204.1",
"protein_id": "XP_047290160.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 479,
"cds_start": 737,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434204.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"transcript": "XM_011545868.2",
"protein_id": "XP_011544170.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 468,
"cds_start": 641,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545868.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "XM_017023280.2",
"protein_id": "XP_016878769.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 453,
"cds_start": 659,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023280.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"transcript": "XM_047434205.1",
"protein_id": "XP_047290161.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 447,
"cds_start": 641,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434205.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "XM_011545869.3",
"protein_id": "XP_011544171.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 413,
"cds_start": 476,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545869.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "XM_011545871.3",
"protein_id": "XP_011544173.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 413,
"cds_start": 476,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545871.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "XM_011545872.3",
"protein_id": "XP_011544174.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 413,
"cds_start": 476,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545872.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "XM_017023281.2",
"protein_id": "XP_016878770.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 413,
"cds_start": 476,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023281.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "XM_024450297.2",
"protein_id": "XP_024306065.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 413,
"cds_start": 476,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450297.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Ser159Leu",
"transcript": "XM_047434206.1",
"protein_id": "XP_047290162.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 413,
"cds_start": 476,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434206.1"
},
{
"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": "SYT17",
"gene_hgnc_id": 24119,
"hgvs_c": "n.696C>T",
"hgvs_p": null,
"transcript": "ENST00000562274.1",
"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": "ENST00000562274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"consequences": [
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"gene_symbol": "ENSG00000286790",
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000666855.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "ENSG00000286790",
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"hgvs_c": "n.226G>A",
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"transcript": "ENST00000821200.1",
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"biotype": "pseudogene",
"feature": "ENST00000821200.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 2,
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"gene_symbol": "LOC124903658",
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"biotype": "pseudogene",
"feature": "XR_007065012.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "SYT17",
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"hgvs_c": "c.*196C>T",
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"transcript": "ENST00000566261.5",
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"aa_length": 92,
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"cds_end": null,
"cds_length": 280,
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"biotype": "protein_coding",
"feature": "ENST00000566261.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "SYT17",
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"hgvs_c": "c.*238C>T",
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"transcript": "ENST00000570264.5",
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"biotype": "protein_coding",
"feature": "ENST00000570264.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "SYT17",
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"hgvs_c": "n.-50C>T",
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"transcript": "ENST00000565183.5",
"protein_id": "ENSP00000456879.1",
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000565183.5"
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],
"gene_symbol": "SYT17",
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"dbsnp": "rs756126766",
"frequency_reference_population": 0.000026021693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000253106,
"gnomad_genomes_af": 0.0000328511,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.052039265632629395,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0725,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.988,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016524.4",
"gene_symbol": "SYT17",
"hgnc_id": 24119,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000666855.2",
"gene_symbol": "ENSG00000286790",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.224G>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007065012.1",
"gene_symbol": "LOC124903658",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.206G>A",
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}
],
"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
}