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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: 16-84304628-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84304628&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84304628,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_021197.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "NM_021197.4",
"protein_id": "NP_067020.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219454.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021197.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "ENST00000219454.10",
"protein_id": "ENSP00000219454.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021197.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219454.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "NM_001282466.2",
"protein_id": "NP_001269395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282466.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "ENST00000568638.1",
"protein_id": "ENSP00000456920.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "ENST00000943489.1",
"protein_id": "ENSP00000613548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "NM_001282467.2",
"protein_id": "NP_001269396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282467.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "ENST00000879883.1",
"protein_id": "ENSP00000549942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "ENST00000879884.1",
"protein_id": "ENSP00000549943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "ENST00000879886.1",
"protein_id": "ENSP00000549945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000879886.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "WFDC1",
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"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "ENST00000879890.1",
"protein_id": "ENSP00000549949.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879890.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "WFDC1",
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"hgvs_c": "c.145-8333T>C",
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"transcript": "ENST00000879888.1",
"protein_id": "ENSP00000549947.1",
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"cdna_start": 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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],
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},
{
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],
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"gene_symbol": "WFDC1",
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"hgvs_c": "c.145-8333T>C",
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"transcript": "ENST00000943491.1",
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},
{
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],
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},
{
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],
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"hgvs_c": "c.145-8333T>C",
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},
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],
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"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "ENST00000943490.1",
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},
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],
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],
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},
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],
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"biotype": "protein_coding",
"feature": "ENST00000879893.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null,
"transcript": "XM_047434411.1",
"protein_id": "XP_047290367.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "XM_047434411.1"
}
],
"gene_symbol": "WFDC1",
"gene_hgnc_id": 15466,
"dbsnp": "rs16963349",
"frequency_reference_population": 0.07079803,
"hom_count_reference_population": 1197,
"allele_count_reference_population": 10779,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.070798,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 10779,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1197,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.472,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_021197.4",
"gene_symbol": "WFDC1",
"hgnc_id": 15466,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.145-8333T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}