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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: 12-900530-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=900530&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WNK1",
"hgnc_id": 14540,
"hgvs_c": "c.7283A>T",
"hgvs_p": "p.His2428Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001184985.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0814,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " hereditary sensory and autonomic, type 2A,Neuropathy,Pseudohypoaldosteronism type 2C",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10269948840141296,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2634,
"aa_ref": "H",
"aa_start": 2420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11552,
"cdna_start": 8246,
"cds_end": null,
"cds_length": 7905,
"cds_start": 7259,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_213655.5",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7259A>T",
"hgvs_p": "p.His2420Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000340908.9",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_998820.3",
"strand": true,
"transcript": "NM_213655.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2634,
"aa_ref": "H",
"aa_start": 2420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11552,
"cdna_start": 8246,
"cds_end": null,
"cds_length": 7905,
"cds_start": 7259,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000340908.9",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7259A>T",
"hgvs_p": "p.His2420Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_213655.5",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341292.5",
"strand": true,
"transcript": "ENST00000340908.9",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2382,
"aa_ref": "H",
"aa_start": 2168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10796,
"cdna_start": 7490,
"cds_end": null,
"cds_length": 7149,
"cds_start": 6503,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_018979.4",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6503A>T",
"hgvs_p": "p.His2168Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000315939.11",
"protein_coding": true,
"protein_id": "NP_061852.3",
"strand": true,
"transcript": "NM_018979.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2382,
"aa_ref": "H",
"aa_start": 2168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10796,
"cdna_start": 7490,
"cds_end": null,
"cds_length": 7149,
"cds_start": 6503,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000315939.11",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6503A>T",
"hgvs_p": "p.His2168Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018979.4",
"protein_coding": true,
"protein_id": "ENSP00000313059.6",
"strand": true,
"transcript": "ENST00000315939.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2833,
"aa_ref": "H",
"aa_start": 2581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11804,
"cdna_start": 8385,
"cds_end": null,
"cds_length": 8502,
"cds_start": 7742,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000530271.6",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7742A>T",
"hgvs_p": "p.His2581Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433548.3",
"strand": true,
"transcript": "ENST00000530271.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2134,
"aa_ref": "H",
"aa_start": 1920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9886,
"cdna_start": 6732,
"cds_end": null,
"cds_length": 6405,
"cds_start": 5759,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000535572.5",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5759A>T",
"hgvs_p": "p.His1920Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441972.1",
"strand": true,
"transcript": "ENST00000535572.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2642,
"aa_ref": "H",
"aa_start": 2428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11576,
"cdna_start": 8270,
"cds_end": null,
"cds_length": 7929,
"cds_start": 7283,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001184985.2",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7283A>T",
"hgvs_p": "p.His2428Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171914.1",
"strand": true,
"transcript": "NM_001184985.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2642,
"aa_ref": "H",
"aa_start": 2428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11232,
"cdna_start": 7926,
"cds_end": null,
"cds_length": 7929,
"cds_start": 7283,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000537687.5",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7283A>T",
"hgvs_p": "p.His2428Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444465.1",
"strand": true,
"transcript": "ENST00000537687.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2381,
"aa_ref": "H",
"aa_start": 2167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10773,
"cdna_start": 7469,
"cds_end": null,
"cds_length": 7146,
"cds_start": 6500,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000899151.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6500A>T",
"hgvs_p": "p.His2167Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569210.1",
"strand": true,
"transcript": "ENST00000899151.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2354,
"aa_ref": "H",
"aa_start": 2140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10701,
"cdna_start": 7395,
"cds_end": null,
"cds_length": 7065,
"cds_start": 6419,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000928791.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6419A>T",
"hgvs_p": "p.His2140Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598850.1",
"strand": true,
"transcript": "ENST00000928791.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2228,
"aa_ref": "H",
"aa_start": 2014,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7746,
"cdna_start": 6472,
"cds_end": null,
"cds_length": 6687,
"cds_start": 6041,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000899157.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6041A>T",
"hgvs_p": "p.His2014Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569216.1",
"strand": true,
"transcript": "ENST00000899157.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2136,
"aa_ref": "H",
"aa_start": 1922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10057,
"cdna_start": 6752,
"cds_end": null,
"cds_length": 6411,
"cds_start": 5765,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000899150.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5765A>T",
"hgvs_p": "p.His1922Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569209.1",
"strand": true,
"transcript": "ENST00000899150.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 2135,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9845,
"cdna_start": 6749,
"cds_end": null,
"cds_length": 6408,
"cds_start": 5762,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000899152.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5762A>T",
"hgvs_p": "p.His1921Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569211.1",
"strand": true,
"transcript": "ENST00000899152.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 2135,
"aa_ref": "H",
"aa_start": 1921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7844,
"cdna_start": 6570,
"cds_end": null,
"cds_length": 6408,
"cds_start": 5762,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000899156.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5762A>T",
"hgvs_p": "p.His1921Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569215.1",
"strand": true,
"transcript": "ENST00000899156.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 2134,
"aa_ref": "H",
"aa_start": 1920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10052,
"cdna_start": 6746,
"cds_end": null,
"cds_length": 6405,
"cds_start": 5759,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_014823.3",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5759A>T",
"hgvs_p": "p.His1920Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055638.2",
"strand": true,
"transcript": "NM_014823.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2107,
"aa_ref": "H",
"aa_start": 1893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7982,
"cdna_start": 6708,
"cds_end": null,
"cds_length": 6324,
"cds_start": 5678,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000899153.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5678A>T",
"hgvs_p": "p.His1893Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569212.1",
"strand": true,
"transcript": "ENST00000899153.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 2107,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7928,
"cdna_start": 6654,
"cds_end": null,
"cds_length": 6324,
"cds_start": 5678,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000899154.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5678A>T",
"hgvs_p": "p.His1893Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569213.1",
"strand": true,
"transcript": "ENST00000899154.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7921,
"cdna_start": 6647,
"cds_end": null,
"cds_length": 6321,
"cds_start": 5675,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000899155.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5675A>T",
"hgvs_p": "p.His1892Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569214.1",
"strand": true,
"transcript": "ENST00000899155.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1975,
"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_length": 8857,
"cdna_start": 5551,
"cds_end": null,
"cds_length": 5928,
"cds_start": 5282,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000675631.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5282A>T",
"hgvs_p": "p.His1761Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502415.1",
"strand": true,
"transcript": "ENST00000675631.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1531,
"aa_ref": "H",
"aa_start": 1317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 3950,
"cds_end": null,
"cds_length": 4596,
"cds_start": 3950,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000676347.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.3950A>T",
"hgvs_p": "p.His1317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501875.1",
"strand": true,
"transcript": "ENST00000676347.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2795,
"aa_ref": "H",
"aa_start": 2581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12035,
"cdna_start": 8729,
"cds_end": null,
"cds_length": 8388,
"cds_start": 7742,
"consequences": [
"missense_variant"
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]
}