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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: X-54232859-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=54232859&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 54232859,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354646.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln",
"transcript": "ENST00000354646.7",
"protein_id": "ENSP00000346667.2",
"transcript_support_level": 1,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5270,
"cdna_end": null,
"cdna_length": 11384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln",
"transcript": "NM_020922.5",
"protein_id": "NP_065973.2",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5270,
"cdna_end": null,
"cdna_length": 11384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "NM_001002838.4",
"protein_id": "NP_001002838.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4649,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5129,
"cdna_end": null,
"cdna_length": 11213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "NM_001395166.1",
"protein_id": "NP_001382095.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4649,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5016,
"cdna_end": null,
"cdna_length": 11100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "ENST00000375169.7",
"protein_id": "ENSP00000364312.3",
"transcript_support_level": 5,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4649,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5088,
"cdna_end": null,
"cdna_length": 11172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln",
"transcript": "XM_017029741.2",
"protein_id": "XP_016885230.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5157,
"cdna_end": null,
"cdna_length": 11271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln",
"transcript": "XM_017029742.2",
"protein_id": "XP_016885231.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5234,
"cdna_end": null,
"cdna_length": 11348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln",
"transcript": "XM_017029743.2",
"protein_id": "XP_016885232.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 11263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln",
"transcript": "XM_017029744.2",
"protein_id": "XP_016885233.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1800,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5127,
"cdna_end": null,
"cdna_length": 11241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln",
"transcript": "XM_017029745.2",
"protein_id": "XP_016885234.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1790,
"cds_start": 4790,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 5157,
"cdna_end": null,
"cdna_length": 11241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_011530802.3",
"protein_id": "XP_011529104.1",
"transcript_support_level": null,
"aa_start": 1550,
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"cds_start": 4649,
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"cdna_start": 5016,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 21,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "WNK3",
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"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_047442376.1",
"protein_id": "XP_047298332.1",
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"aa_start": 1550,
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"cds_start": 4649,
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"feature": null
},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_047442377.1",
"protein_id": "XP_047298333.1",
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},
{
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"strand": false,
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],
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"intron_rank": null,
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"gene_symbol": "WNK3",
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"transcript": "XM_047442378.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_047442379.1",
"protein_id": "XP_047298335.1",
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
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],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
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"transcript": "XM_047442380.1",
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},
{
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],
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_047442381.1",
"protein_id": "XP_047298337.1",
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},
{
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"consequences": [
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],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_047442382.1",
"protein_id": "XP_047298338.1",
"transcript_support_level": null,
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},
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],
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],
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},
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],
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"transcript": "XM_047442385.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_047442386.1",
"protein_id": "XP_047298342.1",
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"aa_start": 1550,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 21,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_047442387.1",
"protein_id": "XP_047298343.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4649,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 5008,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"hgvs_c": "c.4649G>A",
"hgvs_p": "p.Arg1550Gln",
"transcript": "XM_047442388.1",
"protein_id": "XP_047298344.1",
"transcript_support_level": null,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4649,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 4986,
"cdna_end": null,
"cdna_length": 5348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WNK3",
"gene_hgnc_id": 14543,
"dbsnp": "rs958055900",
"frequency_reference_population": 0.000010016162,
"hom_count_reference_population": 2,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000100162,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4156668186187744,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.303,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6549,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.521,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354646.7",
"gene_symbol": "WNK3",
"hgnc_id": 14543,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.4790G>A",
"hgvs_p": "p.Arg1597Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}