← 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: 9-127658376-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127658376&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127658376,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000373299.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "NM_003165.6",
"protein_id": "NP_003156.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 603,
"cds_start": 171,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": "ENST00000373302.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000373302.8",
"protein_id": "ENSP00000362399.3",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 603,
"cds_start": 171,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": "NM_003165.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "NM_001032221.6",
"protein_id": "NP_001027392.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 594,
"cds_start": 171,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "ENST00000373299.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000373299.5",
"protein_id": "ENSP00000362396.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 594,
"cds_start": 171,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3754,
"mane_select": "NM_001032221.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000494254.4",
"protein_id": "ENSP00000485397.2",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 603,
"cds_start": 171,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000647107.2",
"protein_id": "ENSP00000494727.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 599,
"cds_start": 171,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000713766.1",
"protein_id": "ENSP00000519067.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 599,
"cds_start": 171,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "NM_001374306.2",
"protein_id": "NP_001361235.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 591,
"cds_start": 171,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "NM_001374307.2",
"protein_id": "NP_001361236.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 589,
"cds_start": 129,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "NM_001374308.2",
"protein_id": "NP_001361237.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 589,
"cds_start": 129,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "ENST00000637521.2",
"protein_id": "ENSP00000489791.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 589,
"cds_start": 129,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "ENST00000650920.1",
"protein_id": "ENSP00000498834.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 589,
"cds_start": 129,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 4035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "NM_001374309.2",
"protein_id": "NP_001361238.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "NM_001374310.2",
"protein_id": "NP_001361239.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "NM_001374311.2",
"protein_id": "NP_001361240.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "NM_001374312.2",
"protein_id": "NP_001361241.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "ENST00000625363.3",
"protein_id": "ENSP00000486944.2",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "ENST00000626333.2",
"protein_id": "ENSP00000486814.2",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "ENST00000626539.3",
"protein_id": "ENSP00000487211.2",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "ENST00000627871.3",
"protein_id": "ENSP00000485895.2",
"transcript_support_level": 3,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 3752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "ENST00000637173.2",
"protein_id": "ENSP00000490519.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.129T>C",
"hgvs_p": "p.Ile43Ile",
"transcript": "ENST00000704680.1",
"protein_id": "ENSP00000515991.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 580,
"cds_start": 129,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "NM_001374313.2",
"protein_id": "NP_001361242.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 577,
"cds_start": 171,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000637953.1",
"protein_id": "ENSP00000490613.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 577,
"cds_start": 171,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "NM_001374314.1",
"protein_id": "NP_001361243.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 574,
"cds_start": 171,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000636962.2",
"protein_id": "ENSP00000489762.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 574,
"cds_start": 171,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "NM_001374315.2",
"protein_id": "NP_001361244.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 567,
"cds_start": 171,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000713765.1",
"protein_id": "ENSP00000519066.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 534,
"cds_start": 171,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile",
"transcript": "ENST00000496504.4",
"protein_id": "ENSP00000485361.3",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 193,
"cds_start": 171,
"cds_end": null,
"cds_length": 582,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.171T>C",
"hgvs_p": null,
"transcript": "ENST00000635950.2",
"protein_id": "ENSP00000490903.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"transcript": "ENST00000636509.2",
"protein_id": "ENSP00000490810.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.194T>C",
"hgvs_p": null,
"transcript": "ENST00000637060.2",
"protein_id": "ENSP00000490674.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.*1035T>C",
"hgvs_p": null,
"transcript": "ENST00000637464.2",
"protein_id": "ENSP00000489655.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.171T>C",
"hgvs_p": null,
"transcript": "ENST00000704681.1",
"protein_id": "ENSP00000515992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.171T>C",
"hgvs_p": null,
"transcript": "ENST00000713763.1",
"protein_id": "ENSP00000519064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.171T>C",
"hgvs_p": null,
"transcript": "ENST00000713764.1",
"protein_id": "ENSP00000519065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"hgvs_c": "n.*1035T>C",
"hgvs_p": null,
"transcript": "ENST00000637464.2",
"protein_id": "ENSP00000489655.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STXBP1",
"gene_hgnc_id": 11444,
"dbsnp": "rs1554776675",
"frequency_reference_population": 6.84105e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84105e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23999999463558197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.16200000047683716,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.842,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0859927375040763,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000373299.5",
"gene_symbol": "STXBP1",
"hgnc_id": 11444,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.171T>C",
"hgvs_p": "p.Ile57Ile"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Developmental and epileptic encephalopathy|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}