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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: 12-883564-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=883564&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 883564,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000315939.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4415C>T",
"hgvs_p": "p.Ser1472Phe",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 1472,
"aa_end": null,
"aa_length": 2634,
"cds_start": 4415,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 5402,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4415C>T",
"hgvs_p": "p.Ser1472Phe",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 1472,
"aa_end": null,
"aa_length": 2634,
"cds_start": 4415,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 5402,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3659C>T",
"hgvs_p": "p.Ser1220Phe",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 2382,
"cds_start": 3659,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 4646,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3659C>T",
"hgvs_p": "p.Ser1220Phe",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 1220,
"aa_end": null,
"aa_length": 2382,
"cds_start": 3659,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 4646,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4898C>T",
"hgvs_p": "p.Ser1633Phe",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 1633,
"aa_end": null,
"aa_length": 2833,
"cds_start": 4898,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 5541,
"cdna_end": null,
"cdna_length": 11804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2918C>T",
"hgvs_p": "p.Ser973Phe",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 973,
"aa_end": null,
"aa_length": 2134,
"cds_start": 2918,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 3891,
"cdna_end": null,
"cdna_length": 9886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4439C>T",
"hgvs_p": "p.Ser1480Phe",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 2642,
"cds_start": 4439,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 5426,
"cdna_end": null,
"cdna_length": 11576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4439C>T",
"hgvs_p": "p.Ser1480Phe",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 1480,
"aa_end": null,
"aa_length": 2642,
"cds_start": 4439,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 5082,
"cdna_end": null,
"cdna_length": 11232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2918C>T",
"hgvs_p": "p.Ser973Phe",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 2134,
"cds_start": 2918,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 3905,
"cdna_end": null,
"cdna_length": 10052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2438C>T",
"hgvs_p": "p.Ser813Phe",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1975,
"cds_start": 2438,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 8857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.1106C>T",
"hgvs_p": "p.Ser369Phe",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1106,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Ser120Phe",
"transcript": "ENST00000534872.1",
"protein_id": "ENSP00000446253.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 193,
"cds_start": 359,
"cds_end": null,
"cds_length": 584,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4898C>T",
"hgvs_p": "p.Ser1633Phe",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 2795,
"cds_start": 4898,
"cds_end": null,
"cds_length": 8388,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 12035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4895C>T",
"hgvs_p": "p.Ser1632Phe",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 2794,
"cds_start": 4895,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 5882,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4898C>T",
"hgvs_p": "p.Ser1633Phe",
"transcript": "XM_011520999.3",
"protein_id": "XP_011519301.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 2794,
"cds_start": 4898,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4898C>T",
"hgvs_p": "p.Ser1633Phe",
"transcript": "XM_011521000.3",
"protein_id": "XP_011519302.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 2730,
"cds_start": 4898,
"cds_end": null,
"cds_length": 8193,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 11840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4898C>T",
"hgvs_p": "p.Ser1633Phe",
"transcript": "XM_047429374.1",
"protein_id": "XP_047285330.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 2729,
"cds_start": 4898,
"cds_end": null,
"cds_length": 8190,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 11837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4619C>T",
"hgvs_p": "p.Ser1540Phe",
"transcript": "XM_011521001.3",
"protein_id": "XP_011519303.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 2702,
"cds_start": 4619,
"cds_end": null,
"cds_length": 8109,
"cdna_start": 5606,
"cdna_end": null,
"cdna_length": 11756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4619C>T",
"hgvs_p": "p.Ser1540Phe",
"transcript": "XM_047429375.1",
"protein_id": "XP_047285331.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 2701,
"cds_start": 4619,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 5606,
"cdna_end": null,
"cdna_length": 11753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4436C>T",
"hgvs_p": "p.Ser1479Phe",
"transcript": "XM_011521002.3",
"protein_id": "XP_011519304.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 2641,
"cds_start": 4436,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 5423,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4439C>T",
"hgvs_p": "p.Ser1480Phe",
"transcript": "XM_047429376.1",
"protein_id": "XP_047285332.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 2641,
"cds_start": 4439,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 5426,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4160C>T",
"hgvs_p": "p.Ser1387Phe",
"transcript": "XM_011521003.3",
"protein_id": "XP_011519305.1",
"transcript_support_level": null,
"aa_start": 1387,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4160,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 5147,
"cdna_end": null,
"cdna_length": 11297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}