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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: 8-142875040-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142875040&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 142875040,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000497.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1315T>C",
"hgvs_p": "p.Tyr439His",
"transcript": "NM_000497.4",
"protein_id": "NP_000488.3",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 503,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292427.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000497.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1315T>C",
"hgvs_p": "p.Tyr439His",
"transcript": "ENST00000292427.10",
"protein_id": "ENSP00000292427.5",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 503,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000497.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292427.10"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1528T>C",
"hgvs_p": "p.Tyr510His",
"transcript": "ENST00000377675.3",
"protein_id": "ENSP00000366903.3",
"transcript_support_level": 1,
"aa_start": 510,
"aa_end": null,
"aa_length": 574,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377675.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "ENST00000519285.5",
"protein_id": "ENSP00000430144.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519285.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1200+194T>C",
"hgvs_p": null,
"transcript": "ENST00000517471.5",
"protein_id": "ENSP00000428043.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517471.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1477T>C",
"hgvs_p": "p.Tyr493His",
"transcript": "ENST00000964969.1",
"protein_id": "ENSP00000635028.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 557,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964969.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1453T>C",
"hgvs_p": "p.Tyr485His",
"transcript": "ENST00000964974.1",
"protein_id": "ENSP00000635033.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 549,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964974.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1450T>C",
"hgvs_p": "p.Tyr484His",
"transcript": "ENST00000964956.1",
"protein_id": "ENSP00000635015.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 548,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964956.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1441T>C",
"hgvs_p": "p.Tyr481His",
"transcript": "ENST00000964968.1",
"protein_id": "ENSP00000635027.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 545,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964968.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1393T>C",
"hgvs_p": "p.Tyr465His",
"transcript": "ENST00000964955.1",
"protein_id": "ENSP00000635014.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 529,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964955.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1342T>C",
"hgvs_p": "p.Tyr448His",
"transcript": "ENST00000964957.1",
"protein_id": "ENSP00000635016.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 512,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964957.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1306T>C",
"hgvs_p": "p.Tyr436His",
"transcript": "ENST00000964970.1",
"protein_id": "ENSP00000635029.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 500,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964970.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1315T>C",
"hgvs_p": "p.Tyr439His",
"transcript": "ENST00000964975.1",
"protein_id": "ENSP00000635034.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 497,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964975.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1225T>C",
"hgvs_p": "p.Tyr409His",
"transcript": "ENST00000964963.1",
"protein_id": "ENSP00000635022.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 473,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964963.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1219T>C",
"hgvs_p": "p.Tyr407His",
"transcript": "ENST00000964967.1",
"protein_id": "ENSP00000635026.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 471,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964967.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1186T>C",
"hgvs_p": "p.Tyr396His",
"transcript": "ENST00000964978.1",
"protein_id": "ENSP00000635037.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 460,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964978.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1180T>C",
"hgvs_p": "p.Tyr394His",
"transcript": "ENST00000964961.1",
"protein_id": "ENSP00000635020.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 458,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964961.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1159T>C",
"hgvs_p": "p.Tyr387His",
"transcript": "ENST00000964958.1",
"protein_id": "ENSP00000635017.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 451,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964958.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1111T>C",
"hgvs_p": "p.Tyr371His",
"transcript": "ENST00000964971.1",
"protein_id": "ENSP00000635030.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 435,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964971.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1404+194T>C",
"hgvs_p": null,
"transcript": "ENST00000964962.1",
"protein_id": "ENSP00000635021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": null,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964962.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1362+194T>C",
"hgvs_p": null,
"transcript": "ENST00000964977.1",
"protein_id": "ENSP00000635036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": null,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1338+194T>C",
"hgvs_p": null,
"transcript": "ENST00000964976.1",
"protein_id": "ENSP00000635035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
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{
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}