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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: 11-13445103-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=13445103&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 13445103,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032320.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "NM_032320.7",
"protein_id": "NP_115696.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278174.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032320.7"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000278174.10",
"protein_id": "ENSP00000278174.5",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032320.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278174.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "n.89+17989T>G",
"hgvs_p": null,
"transcript": "ENST00000525864.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525864.5"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000944229.1",
"protein_id": "ENSP00000614288.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 518,
"cds_start": 22,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944229.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874031.1",
"protein_id": "ENSP00000544090.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 510,
"cds_start": 22,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874031.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874034.1",
"protein_id": "ENSP00000544093.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 510,
"cds_start": 22,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874034.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874027.1",
"protein_id": "ENSP00000544086.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874027.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874028.1",
"protein_id": "ENSP00000544087.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874028.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874029.1",
"protein_id": "ENSP00000544088.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874029.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874030.1",
"protein_id": "ENSP00000544089.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874030.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874032.1",
"protein_id": "ENSP00000544091.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874032.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874033.1",
"protein_id": "ENSP00000544092.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874033.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874035.1",
"protein_id": "ENSP00000544094.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874035.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874036.1",
"protein_id": "ENSP00000544095.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874036.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874037.1",
"protein_id": "ENSP00000544096.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874037.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000874038.1",
"protein_id": "ENSP00000544097.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874038.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000939227.1",
"protein_id": "ENSP00000609286.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939227.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000939228.1",
"protein_id": "ENSP00000609287.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939228.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000944226.1",
"protein_id": "ENSP00000614285.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944226.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000944227.1",
"protein_id": "ENSP00000614286.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944227.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000944228.1",
"protein_id": "ENSP00000614287.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944228.1"
},
{
"aa_ref": "Y",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD10",
"gene_hgnc_id": 21445,
"hgvs_c": "c.22T>G",
"hgvs_p": "p.Tyr8Asp",
"transcript": "ENST00000944230.1",
"protein_id": "ENSP00000614289.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 475,
"cds_start": 22,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944230.1"
},
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}