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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: 12-908031-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=908031&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "WNK1",
"hgnc_id": 14540,
"hgvs_c": "c.7608C>T",
"hgvs_p": "p.Tyr2536Tyr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001184985.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 1610593,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "12",
"clinvar_classification": "Benign",
"clinvar_disease": " hereditary sensory and autonomic, type 2A,Neuropathy,Pseudohypoaldosteronism type 2C,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2634,
"aa_ref": "Y",
"aa_start": 2528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11552,
"cdna_start": 8571,
"cds_end": null,
"cds_length": 7905,
"cds_start": 7584,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_213655.5",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7584C>T",
"hgvs_p": "p.Tyr2528Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2634,
"aa_ref": "Y",
"aa_start": 2528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11552,
"cdna_start": 8571,
"cds_end": null,
"cds_length": 7905,
"cds_start": 7584,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000340908.9",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7584C>T",
"hgvs_p": "p.Tyr2528Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2382,
"aa_ref": "Y",
"aa_start": 2276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10796,
"cdna_start": 7815,
"cds_end": null,
"cds_length": 7149,
"cds_start": 6828,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_018979.4",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6828C>T",
"hgvs_p": "p.Tyr2276Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2382,
"aa_ref": "Y",
"aa_start": 2276,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10796,
"cdna_start": 7815,
"cds_end": null,
"cds_length": 7149,
"cds_start": 6828,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000315939.11",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6828C>T",
"hgvs_p": "p.Tyr2276Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2833,
"aa_ref": "Y",
"aa_start": 2727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11804,
"cdna_start": 8824,
"cds_end": null,
"cds_length": 8502,
"cds_start": 8181,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000530271.6",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.8181C>T",
"hgvs_p": "p.Tyr2727Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2134,
"aa_ref": "Y",
"aa_start": 2028,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9886,
"cdna_start": 7057,
"cds_end": null,
"cds_length": 6405,
"cds_start": 6084,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000535572.5",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6084C>T",
"hgvs_p": "p.Tyr2028Tyr",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000540885.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "n.312C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000540885.1",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2642,
"aa_ref": "Y",
"aa_start": 2536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11576,
"cdna_start": 8595,
"cds_end": null,
"cds_length": 7929,
"cds_start": 7608,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001184985.2",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7608C>T",
"hgvs_p": "p.Tyr2536Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2642,
"aa_ref": "Y",
"aa_start": 2536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11232,
"cdna_start": 8251,
"cds_end": null,
"cds_length": 7929,
"cds_start": 7608,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000537687.5",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.7608C>T",
"hgvs_p": "p.Tyr2536Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2381,
"aa_ref": "Y",
"aa_start": 2275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10773,
"cdna_start": 7794,
"cds_end": null,
"cds_length": 7146,
"cds_start": 6825,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000899151.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6825C>T",
"hgvs_p": "p.Tyr2275Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2354,
"aa_ref": "Y",
"aa_start": 2248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10701,
"cdna_start": 7720,
"cds_end": null,
"cds_length": 7065,
"cds_start": 6744,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000928791.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6744C>T",
"hgvs_p": "p.Tyr2248Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2228,
"aa_ref": "Y",
"aa_start": 2122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7746,
"cdna_start": 6797,
"cds_end": null,
"cds_length": 6687,
"cds_start": 6366,
"consequences": [
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],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000899157.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6366C>T",
"hgvs_p": "p.Tyr2122Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569216.1",
"strand": true,
"transcript": "ENST00000899157.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 2136,
"aa_ref": "Y",
"aa_start": 2030,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10057,
"cdna_start": 7077,
"cds_end": null,
"cds_length": 6411,
"cds_start": 6090,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000899150.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6090C>T",
"hgvs_p": "p.Tyr2030Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569209.1",
"strand": true,
"transcript": "ENST00000899150.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2135,
"aa_ref": "Y",
"aa_start": 2029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9845,
"cdna_start": 7074,
"cds_end": null,
"cds_length": 6408,
"cds_start": 6087,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000899152.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6087C>T",
"hgvs_p": "p.Tyr2029Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569211.1",
"strand": true,
"transcript": "ENST00000899152.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 2135,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7844,
"cdna_start": 6895,
"cds_end": null,
"cds_length": 6408,
"cds_start": 6087,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000899156.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6087C>T",
"hgvs_p": "p.Tyr2029Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569215.1",
"strand": true,
"transcript": "ENST00000899156.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2134,
"aa_ref": "Y",
"aa_start": 2028,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10052,
"cdna_start": 7071,
"cds_end": null,
"cds_length": 6405,
"cds_start": 6084,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_014823.3",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6084C>T",
"hgvs_p": "p.Tyr2028Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 2107,
"aa_ref": "Y",
"aa_start": 2001,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7982,
"cdna_start": 7033,
"cds_end": null,
"cds_length": 6324,
"cds_start": 6003,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000899153.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6003C>T",
"hgvs_p": "p.Tyr2001Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569212.1",
"strand": true,
"transcript": "ENST00000899153.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7928,
"cdna_start": 6979,
"cds_end": null,
"cds_length": 6324,
"cds_start": 6003,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000899154.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6003C>T",
"hgvs_p": "p.Tyr2001Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569213.1",
"strand": true,
"transcript": "ENST00000899154.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2106,
"aa_ref": "Y",
"aa_start": 2000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7921,
"cdna_start": 6972,
"cds_end": null,
"cds_length": 6321,
"cds_start": 6000,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000899155.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.6000C>T",
"hgvs_p": "p.Tyr2000Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569214.1",
"strand": true,
"transcript": "ENST00000899155.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1975,
"aa_ref": "Y",
"aa_start": 1869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8857,
"cdna_start": 5876,
"cds_end": null,
"cds_length": 5928,
"cds_start": 5607,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000675631.1",
"gene_hgnc_id": 14540,
"gene_symbol": "WNK1",
"hgvs_c": "c.5607C>T",
"hgvs_p": "p.Tyr1869Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "Y",
"aa_start": 1425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 4275,
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}