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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: 18-55228850-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55228850&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 55228850,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000354452.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Arg626*",
"transcript": "NM_001083962.2",
"protein_id": "NP_001077431.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 671,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "ENST00000354452.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Arg626*",
"transcript": "ENST00000354452.8",
"protein_id": "ENSP00000346440.3",
"transcript_support_level": 5,
"aa_start": 626,
"aa_end": null,
"aa_length": 671,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "NM_001083962.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.2182C>T",
"hgvs_p": "p.Arg728*",
"transcript": "ENST00000398339.5",
"protein_id": "ENSP00000381382.1",
"transcript_support_level": 1,
"aa_start": 728,
"aa_end": null,
"aa_length": 773,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.Arg622*",
"transcript": "ENST00000356073.8",
"protein_id": "ENSP00000348374.4",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 667,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 8317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Arg619*",
"transcript": "ENST00000566286.5",
"protein_id": "ENSP00000455418.2",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 664,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580*",
"transcript": "ENST00000543082.5",
"protein_id": "ENSP00000439656.1",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 625,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1684C>T",
"hgvs_p": "p.Arg562*",
"transcript": "ENST00000567880.5",
"protein_id": "ENSP00000454366.1",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 607,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Arg551*",
"transcript": "ENST00000564228.5",
"protein_id": "ENSP00000455261.1",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 596,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Arg466*",
"transcript": "ENST00000457482.7",
"protein_id": "ENSP00000409447.2",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 511,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462*",
"transcript": "ENST00000561831.7",
"protein_id": "ENSP00000457765.1",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 507,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462*",
"transcript": "ENST00000570287.6",
"protein_id": "ENSP00000455763.1",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 507,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "n.5399C>T",
"hgvs_p": null,
"transcript": "ENST00000562680.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.2182C>T",
"hgvs_p": "p.Arg728*",
"transcript": "NM_001243226.3",
"protein_id": "NP_001230155.2",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 773,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"transcript": "ENST00000638154.3",
"protein_id": "ENSP00000490625.2",
"transcript_support_level": 5,
"aa_start": 635,
"aa_end": null,
"aa_length": 680,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 7946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1894C>T",
"hgvs_p": "p.Arg632*",
"transcript": "NM_001243228.2",
"protein_id": "NP_001230157.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 677,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2429,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1894C>T",
"hgvs_p": "p.Arg632*",
"transcript": "ENST00000564403.6",
"protein_id": "ENSP00000457263.1",
"transcript_support_level": 5,
"aa_start": 632,
"aa_end": null,
"aa_length": 677,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Arg626*",
"transcript": "NM_001369567.1",
"protein_id": "NP_001356496.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 671,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Arg626*",
"transcript": "NM_001369568.1",
"protein_id": "NP_001356497.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 671,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2044,
"cdna_end": null,
"cdna_length": 8034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Arg626*",
"transcript": "ENST00000629387.2",
"protein_id": "ENSP00000486670.1",
"transcript_support_level": 5,
"aa_start": 626,
"aa_end": null,
"aa_length": 671,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Arg625*",
"transcript": "NM_001330604.3",
"protein_id": "NP_001317533.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 670,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Arg625*",
"transcript": "NM_001369569.1",
"protein_id": "NP_001356498.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 670,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 8031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1873C>T",
"hgvs_p": "p.Arg625*",
"transcript": "NM_001369570.1",
"protein_id": "NP_001356499.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 670,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.Arg622*",
"transcript": "NM_001369571.1",
"protein_id": "NP_001356500.1",
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"hgnc_id": 11634,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1876C>T",
"hgvs_p": "p.Arg626*"
}
],
"clinvar_disease": "Inborn genetic diseases,Pitt-Hopkins syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 LP:1",
"phenotype_combined": "not provided|Pitt-Hopkins syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}