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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: 15-40458807-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40458807&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40458807,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014952.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "NM_014952.5",
"protein_id": "NP_055767.3",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 780,
"cds_start": 343,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000416165.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014952.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000416165.6",
"protein_id": "ENSP00000396976.1",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 780,
"cds_start": 343,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014952.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416165.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000561234.5",
"protein_id": "ENSP00000454150.1",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 343,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561234.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000560846.1",
"protein_id": "ENSP00000454101.1",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 777,
"cds_start": 343,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560846.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000852445.1",
"protein_id": "ENSP00000522504.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 780,
"cds_start": 343,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852445.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000852447.1",
"protein_id": "ENSP00000522506.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 780,
"cds_start": 343,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852447.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000918911.1",
"protein_id": "ENSP00000588970.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 780,
"cds_start": 343,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918911.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000959370.1",
"protein_id": "ENSP00000629429.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 780,
"cds_start": 343,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959370.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000959373.1",
"protein_id": "ENSP00000629432.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 780,
"cds_start": 343,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959373.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "NM_001301132.2",
"protein_id": "NP_001288061.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 343,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301132.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000852443.1",
"protein_id": "ENSP00000522502.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 343,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852443.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000852446.1",
"protein_id": "ENSP00000522505.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 343,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852446.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000918913.1",
"protein_id": "ENSP00000588972.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 343,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918913.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000918916.1",
"protein_id": "ENSP00000588975.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 779,
"cds_start": 343,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918916.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "NM_001411044.1",
"protein_id": "NP_001397973.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 777,
"cds_start": 343,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411044.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000852444.1",
"protein_id": "ENSP00000522503.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 776,
"cds_start": 343,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852444.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000918912.1",
"protein_id": "ENSP00000588971.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 776,
"cds_start": 343,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918912.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000918914.1",
"protein_id": "ENSP00000588973.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 776,
"cds_start": 343,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918914.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000918915.1",
"protein_id": "ENSP00000588974.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 776,
"cds_start": 343,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918915.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000918917.1",
"protein_id": "ENSP00000588976.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 776,
"cds_start": 343,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918917.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000959369.1",
"protein_id": "ENSP00000629428.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 776,
"cds_start": 343,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959369.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAHD1",
"gene_hgnc_id": 29153,
"hgvs_c": "c.343C>T",
"hgvs_p": "p.Arg115Cys",
"transcript": "ENST00000959372.1",
"protein_id": "ENSP00000629431.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 776,
"cds_start": 343,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}