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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: 11-123735229-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123735229&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 123735229,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000530393.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "NM_003455.4",
"protein_id": "NP_003446.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4435,
"mane_select": "ENST00000530393.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "ENST00000530393.6",
"protein_id": "ENSP00000432504.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4435,
"mane_select": "NM_003455.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "ENST00000336139.8",
"protein_id": "ENSP00000337724.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "NM_001301779.2",
"protein_id": "NP_001288708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "NM_001301780.2",
"protein_id": "NP_001288709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "ENST00000529691.1",
"protein_id": "ENSP00000433881.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "ENST00000533463.5",
"protein_id": "ENSP00000431223.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "ENST00000528306.5",
"protein_id": "ENSP00000431761.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": -4,
"cds_end": null,
"cds_length": 137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-98+4205G>A",
"hgvs_p": null,
"transcript": "ENST00000526252.5",
"protein_id": "ENSP00000434338.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 9,
"cds_start": -4,
"cds_end": null,
"cds_length": 31,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "n.364-4244G>A",
"hgvs_p": null,
"transcript": "ENST00000529250.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "n.522-4306G>A",
"hgvs_p": null,
"transcript": "ENST00000530944.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 585,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "XM_005271659.2",
"protein_id": "XP_005271716.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4475,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
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"transcript": "XM_005271660.2",
"protein_id": "XP_005271717.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
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"transcript": "XM_005271661.2",
"protein_id": "XP_005271718.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-98+4205G>A",
"hgvs_p": null,
"transcript": "XM_006718901.3",
"protein_id": "XP_006718964.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 4609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "XM_011542972.2",
"protein_id": "XP_011541274.1",
"transcript_support_level": null,
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},
{
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-98+4205G>A",
"hgvs_p": null,
"transcript": "XM_011542973.2",
"protein_id": "XP_011541275.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-370-3558G>A",
"hgvs_p": null,
"transcript": "XM_011542975.2",
"protein_id": "XP_011541277.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-98+4205G>A",
"hgvs_p": null,
"transcript": "XM_017018268.3",
"protein_id": "XP_016873757.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"hgvs_c": "c.-97-4244G>A",
"hgvs_p": null,
"transcript": "XM_047427564.1",
"protein_id": "XP_047283520.1",
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5287,
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"feature": null
}
],
"gene_symbol": "ZNF202",
"gene_hgnc_id": 12994,
"dbsnp": "rs9326264",
"frequency_reference_population": 0.61142695,
"hom_count_reference_population": 28783,
"allele_count_reference_population": 92921,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.611427,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 92921,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 28783,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"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": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.192,
"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": "ENST00000530393.6",
"gene_symbol": "ZNF202",
"hgnc_id": 12994,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-97-4244G>A",
"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
}