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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: 15-51242798-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=51242798&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 51242798,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000396402.6",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_000103.4",
"protein_id": "NP_000094.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": "ENST00000396402.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": true,
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000396402.6",
"protein_id": "ENSP00000379683.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": "NM_000103.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000559878.5",
"protein_id": "ENSP00000453149.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000405913.7",
"protein_id": "ENSP00000383930.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 218,
"cds_start": 115,
"cds_end": null,
"cds_length": 657,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 1697,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "n.115T>G",
"hgvs_p": null,
"transcript": "ENST00000439712.6",
"protein_id": "ENSP00000390614.2",
"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": 1442,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "n.115T>G",
"hgvs_p": null,
"transcript": "ENST00000557934.5",
"protein_id": "ENSP00000454004.1",
"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": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347248.1",
"protein_id": "NP_001334177.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347249.2",
"protein_id": "NP_001334178.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347250.2",
"protein_id": "NP_001334179.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347251.2",
"protein_id": "NP_001334180.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347252.2",
"protein_id": "NP_001334181.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347253.2",
"protein_id": "NP_001334182.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347254.2",
"protein_id": "NP_001334183.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"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": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347255.2",
"protein_id": "NP_001334184.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
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"cdna_start": 347,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_001347256.2",
"protein_id": "NP_001334185.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "NM_031226.3",
"protein_id": "NP_112503.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
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"cdna_start": 364,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000396404.8",
"protein_id": "ENSP00000379685.4",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 503,
"cds_start": 115,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000558328.5",
"protein_id": "ENSP00000453280.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 282,
"cds_start": 115,
"cds_end": null,
"cds_length": 850,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000561075.5",
"protein_id": "ENSP00000454039.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 243,
"cds_start": 115,
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"cdna_start": 255,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000453807.6",
"protein_id": "ENSP00000391139.2",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 241,
"cds_start": 115,
"cds_end": null,
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"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000557858.5",
"protein_id": "ENSP00000452627.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 218,
"cds_start": 115,
"cds_end": null,
"cds_length": 657,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000559980.5",
"protein_id": "ENSP00000452872.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 171,
"cds_start": 115,
"cds_end": null,
"cds_length": 516,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP19A1",
"gene_hgnc_id": 2594,
"hgvs_c": "c.115T>G",
"hgvs_p": "p.Trp39Gly",
"transcript": "ENST00000405011.6",
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],
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{
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"verdict": "Likely_pathogenic",
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{
"score": 6,
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"verdict": "Likely_pathogenic",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}