← 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: 9-127663350-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127663350&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STXBP1",
"hgnc_id": 11444,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"inheritance_mode": "AD,AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_003165.6",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.7185,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8647557497024536,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1812,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003165.6",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000373302.8",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003156.1",
"strand": true,
"transcript": "NM_003165.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1812,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000373302.8",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_003165.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362399.3",
"strand": true,
"transcript": "ENST00000373302.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1785,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001032221.6",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373299.5",
"protein_coding": true,
"protein_id": "NP_001027392.1",
"strand": true,
"transcript": "NM_001032221.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1785,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000373299.5",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001032221.6",
"protein_coding": true,
"protein_id": "ENSP00000362396.2",
"strand": true,
"transcript": "ENST00000373299.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4183,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1812,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000494254.4",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485397.2",
"strand": true,
"transcript": "ENST00000494254.4",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1812,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944186.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614245.1",
"strand": true,
"transcript": "ENST00000944186.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 599,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1800,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000647107.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494727.2",
"strand": true,
"transcript": "ENST00000647107.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 599,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1800,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713766.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519067.1",
"strand": true,
"transcript": "ENST00000713766.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1776,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374306.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361235.1",
"strand": true,
"transcript": "NM_001374306.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1776,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944185.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614244.1",
"strand": true,
"transcript": "ENST00000944185.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1770,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374307.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361236.1",
"strand": true,
"transcript": "NM_001374307.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1770,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374308.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361237.1",
"strand": true,
"transcript": "NM_001374308.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1770,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637521.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489791.1",
"strand": true,
"transcript": "ENST00000637521.2",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 589,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1770,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000650920.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498834.1",
"strand": true,
"transcript": "ENST00000650920.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374309.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361238.1",
"strand": true,
"transcript": "NM_001374309.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374310.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361239.1",
"strand": true,
"transcript": "NM_001374310.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374311.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361240.1",
"strand": true,
"transcript": "NM_001374311.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3856,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374312.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361241.1",
"strand": true,
"transcript": "NM_001374312.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000625363.3",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486944.2",
"strand": true,
"transcript": "ENST00000625363.3",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000626333.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486814.2",
"strand": true,
"transcript": "ENST00000626333.2",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3840,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000626539.3",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487211.2",
"strand": true,
"transcript": "ENST00000626539.3",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3752,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000627871.3",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485895.2",
"strand": true,
"transcript": "ENST00000627871.3",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637173.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490519.1",
"strand": true,
"transcript": "ENST00000637173.2",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 580,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3782,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1743,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000704680.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515991.1",
"strand": true,
"transcript": "ENST00000704680.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 577,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1734,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374313.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361242.1",
"strand": true,
"transcript": "NM_001374313.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 577,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1734,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000637953.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490613.1",
"strand": true,
"transcript": "ENST00000637953.1",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1725,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374314.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361243.1",
"strand": true,
"transcript": "NM_001374314.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1725,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000636962.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489762.1",
"strand": true,
"transcript": "ENST00000636962.2",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 567,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1704,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374315.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361244.1",
"strand": true,
"transcript": "NM_001374315.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 558,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3657,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1677,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944184.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614243.1",
"strand": true,
"transcript": "ENST00000944184.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 534,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1605,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713765.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519066.1",
"strand": true,
"transcript": "ENST00000713765.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1081,
"cdna_start": 709,
"cds_end": null,
"cds_length": 582,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000496504.4",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485361.3",
"strand": true,
"transcript": "ENST00000496504.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000626416.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.411G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000626416.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000635950.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.575G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490903.1",
"strand": true,
"transcript": "ENST00000635950.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000636509.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.533G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490810.1",
"strand": true,
"transcript": "ENST00000636509.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637060.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.*217G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490674.2",
"strand": true,
"transcript": "ENST00000637060.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637464.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.*1439G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489655.2",
"strand": true,
"transcript": "ENST00000637464.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000704681.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.575G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515992.1",
"strand": true,
"transcript": "ENST00000704681.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713763.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.*354G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519064.1",
"strand": true,
"transcript": "ENST00000713763.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713764.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.575G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519065.1",
"strand": true,
"transcript": "ENST00000713764.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637060.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.*217G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490674.2",
"strand": true,
"transcript": "ENST00000637060.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000637464.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.*1439G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489655.2",
"strand": true,
"transcript": "ENST00000637464.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713763.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "n.*354G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519064.1",
"strand": true,
"transcript": "ENST00000713763.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1434679305",
"effect": "missense_variant",
"frequency_reference_population": 0.0000013681481,
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136815,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.061,
"pos": 127663350,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.597,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003165.6"
}
]
}