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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: 4-10019000-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=10019000&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 10019000,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000264784.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "NM_020041.3",
"protein_id": "NP_064425.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 540,
"cds_start": 224,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": "ENST00000264784.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "ENST00000264784.8",
"protein_id": "ENSP00000264784.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 540,
"cds_start": 224,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": "NM_020041.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Arg",
"transcript": "ENST00000309065.7",
"protein_id": "ENSP00000311383.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 511,
"cds_start": 137,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 1866,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "n.258T>G",
"hgvs_p": null,
"transcript": "ENST00000505104.5",
"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": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Arg",
"transcript": "NM_001001290.2",
"protein_id": "NP_001001290.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 511,
"cds_start": 137,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Arg",
"transcript": "ENST00000506583.5",
"protein_id": "ENSP00000422209.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 511,
"cds_start": 137,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Arg",
"transcript": "ENST00000513129.1",
"protein_id": "ENSP00000426800.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 197,
"cds_start": 137,
"cds_end": null,
"cds_length": 594,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_011513856.4",
"protein_id": "XP_011512158.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 615,
"cds_start": 224,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_017008457.3",
"protein_id": "XP_016863946.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 609,
"cds_start": 224,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Arg",
"transcript": "XM_011513858.2",
"protein_id": "XP_011512160.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 586,
"cds_start": 137,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Arg",
"transcript": "XM_047415973.1",
"protein_id": "XP_047271929.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 580,
"cds_start": 137,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_006713968.5",
"protein_id": "XP_006714031.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 563,
"cds_start": 224,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 7981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_047415974.1",
"protein_id": "XP_047271930.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 553,
"cds_start": 224,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_011513859.4",
"protein_id": "XP_011512161.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 538,
"cds_start": 224,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_011513860.4",
"protein_id": "XP_011512162.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 537,
"cds_start": 224,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Arg",
"transcript": "XM_047415975.1",
"protein_id": "XP_047271931.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 511,
"cds_start": 137,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_017008458.3",
"protein_id": "XP_016863947.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 487,
"cds_start": 224,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_011513861.4",
"protein_id": "XP_011512163.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 486,
"cds_start": 224,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_024454152.2",
"protein_id": "XP_024309920.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 477,
"cds_start": 224,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_011513865.3",
"protein_id": "XP_011512167.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 452,
"cds_start": 224,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 13122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_011513866.3",
"protein_id": "XP_011512168.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 445,
"cds_start": 224,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 13296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_024454153.2",
"protein_id": "XP_024309921.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 440,
"cds_start": 224,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.224T>G",
"hgvs_p": "p.Leu75Arg",
"transcript": "XM_047415979.1",
"protein_id": "XP_047271935.1",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Hypouricemia, renal, 2|SLC2A9-related disorder",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}