← 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: 11-59787044-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=59787044&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 59787044,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004177.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_004177.5",
"protein_id": "NP_004168.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337979.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004177.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000337979.9",
"protein_id": "ENSP00000338562.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004177.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337979.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440522.1",
"protein_id": "NP_001427451.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440522.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440523.1",
"protein_id": "NP_001427452.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440523.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440524.1",
"protein_id": "NP_001427453.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440524.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440525.1",
"protein_id": "NP_001427454.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440525.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000530221.2",
"protein_id": "ENSP00000434836.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530221.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000887353.1",
"protein_id": "ENSP00000557412.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887353.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000887354.1",
"protein_id": "ENSP00000557413.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887354.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000887356.1",
"protein_id": "ENSP00000557415.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887356.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000928727.1",
"protein_id": "ENSP00000598786.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928727.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000928728.1",
"protein_id": "ENSP00000598787.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928728.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000955060.1",
"protein_id": "ENSP00000625119.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 289,
"cds_start": 122,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955060.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440526.1",
"protein_id": "NP_001427455.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 287,
"cds_start": 122,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440526.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440527.1",
"protein_id": "NP_001427456.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 287,
"cds_start": 122,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440527.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Glu39Gly",
"transcript": "NM_001440528.1",
"protein_id": "NP_001427457.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 287,
"cds_start": 116,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440528.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440529.1",
"protein_id": "NP_001427458.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 287,
"cds_start": 122,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440529.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000633708.1",
"protein_id": "ENSP00000487790.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 287,
"cds_start": 122,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633708.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440530.1",
"protein_id": "NP_001427459.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 282,
"cds_start": 122,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440530.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001178040.3",
"protein_id": "NP_001171511.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 277,
"cds_start": 122,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178040.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000529177.5",
"protein_id": "ENSP00000433248.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 277,
"cds_start": 122,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529177.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000887355.1",
"protein_id": "ENSP00000557414.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 264,
"cds_start": 122,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887355.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Glu10Gly",
"transcript": "ENST00000641815.1",
"protein_id": "ENSP00000493027.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 258,
"cds_start": 29,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641815.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001440531.1",
"protein_id": "NP_001427460.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 252,
"cds_start": 122,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440531.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Glu51Gly",
"transcript": "XM_017018191.2",
"protein_id": "XP_016873680.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 299,
"cds_start": 152,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018191.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Glu51Gly",
"transcript": "XM_017018192.2",
"protein_id": "XP_016873681.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 297,
"cds_start": 152,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018192.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.152A>G",
"hgvs_p": "p.Glu51Gly",
"transcript": "XM_017018193.2",
"protein_id": "XP_016873682.2",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 297,
"cds_start": 152,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018193.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.29A>G",
"hgvs_p": "p.Glu10Gly",
"transcript": "XM_047427501.1",
"protein_id": "XP_047283457.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 258,
"cds_start": 29,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427501.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_047427503.1",
"protein_id": "XP_047283459.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 252,
"cds_start": 122,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427503.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "n.269A>G",
"hgvs_p": null,
"transcript": "ENST00000530498.1",
"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": "ENST00000530498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "n.115-1829A>G",
"hgvs_p": null,
"transcript": "ENST00000533637.5",
"protein_id": "ENSP00000436200.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000533637.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"hgvs_c": "c.-23A>G",
"hgvs_p": null,
"transcript": "ENST00000528805.1",
"protein_id": "ENSP00000431386.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528805.1"
}
],
"gene_symbol": "STX3",
"gene_hgnc_id": 11438,
"dbsnp": "rs797045154",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5139833092689514,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.1327,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.429,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.17,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004177.5",
"gene_symbol": "STX3",
"hgnc_id": 11438,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}