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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: 12-885620-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=885620&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 885620,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000315939.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5572C>G",
"hgvs_p": "p.Pro1858Ala",
"transcript": "NM_213655.5",
"protein_id": "NP_998820.3",
"transcript_support_level": null,
"aa_start": 1858,
"aa_end": null,
"aa_length": 2634,
"cds_start": 5572,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 6559,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "ENST00000340908.9",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5572C>G",
"hgvs_p": "p.Pro1858Ala",
"transcript": "ENST00000340908.9",
"protein_id": "ENSP00000341292.5",
"transcript_support_level": 5,
"aa_start": 1858,
"aa_end": null,
"aa_length": 2634,
"cds_start": 5572,
"cds_end": null,
"cds_length": 7905,
"cdna_start": 6559,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": "NM_213655.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4816C>G",
"hgvs_p": "p.Pro1606Ala",
"transcript": "NM_018979.4",
"protein_id": "NP_061852.3",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2382,
"cds_start": 4816,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 5803,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "ENST00000315939.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4816C>G",
"hgvs_p": "p.Pro1606Ala",
"transcript": "ENST00000315939.11",
"protein_id": "ENSP00000313059.6",
"transcript_support_level": 1,
"aa_start": 1606,
"aa_end": null,
"aa_length": 2382,
"cds_start": 4816,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 5803,
"cdna_end": null,
"cdna_length": 10796,
"mane_select": "NM_018979.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6055C>G",
"hgvs_p": "p.Pro2019Ala",
"transcript": "ENST00000530271.6",
"protein_id": "ENSP00000433548.3",
"transcript_support_level": 1,
"aa_start": 2019,
"aa_end": null,
"aa_length": 2833,
"cds_start": 6055,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 6698,
"cdna_end": null,
"cdna_length": 11804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4075C>G",
"hgvs_p": "p.Pro1359Ala",
"transcript": "ENST00000535572.5",
"protein_id": "ENSP00000441972.1",
"transcript_support_level": 1,
"aa_start": 1359,
"aa_end": null,
"aa_length": 2134,
"cds_start": 4075,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 5048,
"cdna_end": null,
"cdna_length": 9886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5596C>G",
"hgvs_p": "p.Pro1866Ala",
"transcript": "NM_001184985.2",
"protein_id": "NP_001171914.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2642,
"cds_start": 5596,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 6583,
"cdna_end": null,
"cdna_length": 11576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5596C>G",
"hgvs_p": "p.Pro1866Ala",
"transcript": "ENST00000537687.5",
"protein_id": "ENSP00000444465.1",
"transcript_support_level": 5,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2642,
"cds_start": 5596,
"cds_end": null,
"cds_length": 7929,
"cdna_start": 6239,
"cdna_end": null,
"cdna_length": 11232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4075C>G",
"hgvs_p": "p.Pro1359Ala",
"transcript": "NM_014823.3",
"protein_id": "NP_055638.2",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 2134,
"cds_start": 4075,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 5062,
"cdna_end": null,
"cdna_length": 10052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.3595C>G",
"hgvs_p": "p.Pro1199Ala",
"transcript": "ENST00000675631.1",
"protein_id": "ENSP00000502415.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1975,
"cds_start": 3595,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 3864,
"cdna_end": null,
"cdna_length": 8857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.2263C>G",
"hgvs_p": "p.Pro755Ala",
"transcript": "ENST00000676347.1",
"protein_id": "ENSP00000501875.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 1531,
"cds_start": 2263,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6055C>G",
"hgvs_p": "p.Pro2019Ala",
"transcript": "XM_011520997.4",
"protein_id": "XP_011519299.1",
"transcript_support_level": null,
"aa_start": 2019,
"aa_end": null,
"aa_length": 2795,
"cds_start": 6055,
"cds_end": null,
"cds_length": 8388,
"cdna_start": 7042,
"cdna_end": null,
"cdna_length": 12035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6052C>G",
"hgvs_p": "p.Pro2018Ala",
"transcript": "XM_011520998.3",
"protein_id": "XP_011519300.1",
"transcript_support_level": null,
"aa_start": 2018,
"aa_end": null,
"aa_length": 2794,
"cds_start": 6052,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 7039,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6055C>G",
"hgvs_p": "p.Pro2019Ala",
"transcript": "XM_011520999.3",
"protein_id": "XP_011519301.1",
"transcript_support_level": null,
"aa_start": 2019,
"aa_end": null,
"aa_length": 2794,
"cds_start": 6055,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 7042,
"cdna_end": null,
"cdna_length": 12032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6055C>G",
"hgvs_p": "p.Pro2019Ala",
"transcript": "XM_011521000.3",
"protein_id": "XP_011519302.1",
"transcript_support_level": null,
"aa_start": 2019,
"aa_end": null,
"aa_length": 2730,
"cds_start": 6055,
"cds_end": null,
"cds_length": 8193,
"cdna_start": 7042,
"cdna_end": null,
"cdna_length": 11840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.6055C>G",
"hgvs_p": "p.Pro2019Ala",
"transcript": "XM_047429374.1",
"protein_id": "XP_047285330.1",
"transcript_support_level": null,
"aa_start": 2019,
"aa_end": null,
"aa_length": 2729,
"cds_start": 6055,
"cds_end": null,
"cds_length": 8190,
"cdna_start": 7042,
"cdna_end": null,
"cdna_length": 11837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5776C>G",
"hgvs_p": "p.Pro1926Ala",
"transcript": "XM_011521001.3",
"protein_id": "XP_011519303.1",
"transcript_support_level": null,
"aa_start": 1926,
"aa_end": null,
"aa_length": 2702,
"cds_start": 5776,
"cds_end": null,
"cds_length": 8109,
"cdna_start": 6763,
"cdna_end": null,
"cdna_length": 11756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5776C>G",
"hgvs_p": "p.Pro1926Ala",
"transcript": "XM_047429375.1",
"protein_id": "XP_047285331.1",
"transcript_support_level": null,
"aa_start": 1926,
"aa_end": null,
"aa_length": 2701,
"cds_start": 5776,
"cds_end": null,
"cds_length": 8106,
"cdna_start": 6763,
"cdna_end": null,
"cdna_length": 11753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5593C>G",
"hgvs_p": "p.Pro1865Ala",
"transcript": "XM_011521002.3",
"protein_id": "XP_011519304.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 2641,
"cds_start": 5593,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 6580,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5596C>G",
"hgvs_p": "p.Pro1866Ala",
"transcript": "XM_047429376.1",
"protein_id": "XP_047285332.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2641,
"cds_start": 5596,
"cds_end": null,
"cds_length": 7926,
"cdna_start": 6583,
"cdna_end": null,
"cdna_length": 11573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.5317C>G",
"hgvs_p": "p.Pro1773Ala",
"transcript": "XM_011521003.3",
"protein_id": "XP_011519305.1",
"transcript_support_level": null,
"aa_start": 1773,
"aa_end": null,
"aa_length": 2549,
"cds_start": 5317,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 6304,
"cdna_end": null,
"cdna_length": 11297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK1",
"gene_hgnc_id": 14540,
"hgvs_c": "c.4813C>G",
"hgvs_p": "p.Pro1605Ala",
"transcript": "XM_006719003.3",
"protein_id": "XP_006719066.1",
"transcript_support_level": null,
"aa_start": 1605,
"aa_end": null,
"aa_length": 2381,
"cds_start": 4813,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 5800,
"cdna_end": null,
"cdna_length": 10793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
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"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000315939.11",
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"clinvar_disease": " hereditary sensory and autonomic, type 2A,Inborn genetic diseases,Neuropathy,Pseudohypoaldosteronism type 2C",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}