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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: 17-1728074-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1728074&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1728074,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000409644.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.3115G>A",
"hgvs_p": "p.Ala1039Thr",
"transcript": "NM_001163809.2",
"protein_id": "NP_001157281.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1941,
"cds_start": 3115,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 6982,
"mane_select": "ENST00000409644.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.3115G>A",
"hgvs_p": "p.Ala1039Thr",
"transcript": "ENST00000409644.6",
"protein_id": "ENSP00000386609.1",
"transcript_support_level": 1,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1941,
"cds_start": 3115,
"cds_end": null,
"cds_length": 5826,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 6982,
"mane_select": "NM_001163809.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.-308-2681G>A",
"hgvs_p": null,
"transcript": "ENST00000446363.5",
"protein_id": "ENSP00000401560.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": -4,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.3115G>A",
"hgvs_p": "p.Ala1039Thr",
"transcript": "XM_017024184.2",
"protein_id": "XP_016879673.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1818,
"cds_start": 3115,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 6885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.3115G>A",
"hgvs_p": "p.Ala1039Thr",
"transcript": "XM_047435340.1",
"protein_id": "XP_047291296.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1746,
"cds_start": 3115,
"cds_end": null,
"cds_length": 5241,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.3115G>A",
"hgvs_p": "p.Ala1039Thr",
"transcript": "XM_047435341.1",
"protein_id": "XP_047291297.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1583,
"cds_start": 3115,
"cds_end": null,
"cds_length": 4752,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 5343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "n.501G>A",
"hgvs_p": null,
"transcript": "ENST00000464528.5",
"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": 4432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.-39G>A",
"hgvs_p": null,
"transcript": "NM_152348.4",
"protein_id": "NP_689561.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.-39G>A",
"hgvs_p": null,
"transcript": "ENST00000309182.9",
"protein_id": "ENSP00000312074.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.-39G>A",
"hgvs_p": null,
"transcript": "XM_011523651.3",
"protein_id": "XP_011521953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.59-2306G>A",
"hgvs_p": null,
"transcript": "NM_001163673.2",
"protein_id": "NP_001157145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.59-2306G>A",
"hgvs_p": null,
"transcript": "ENST00000437219.6",
"protein_id": "ENSP00000391074.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.-14-2306G>A",
"hgvs_p": null,
"transcript": "NM_001163811.2",
"protein_id": "NP_001157283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.-14-2306G>A",
"hgvs_p": null,
"transcript": "ENST00000419248.5",
"protein_id": "ENSP00000407845.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.59-2306G>A",
"hgvs_p": null,
"transcript": "ENST00000455636.5",
"protein_id": "ENSP00000395226.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.63-4251G>A",
"hgvs_p": null,
"transcript": "ENST00000468539.5",
"protein_id": "ENSP00000460742.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.-89+3288G>A",
"hgvs_p": null,
"transcript": "ENST00000418841.5",
"protein_id": "ENSP00000395198.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": -4,
"cds_end": null,
"cds_length": 397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "n.88-2306G>A",
"hgvs_p": null,
"transcript": "ENST00000492901.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 545,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262791",
"gene_hgnc_id": 58142,
"hgvs_c": "n.296-2163C>T",
"hgvs_p": null,
"transcript": "ENST00000576540.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"hgvs_c": "c.-138G>A",
"hgvs_p": null,
"transcript": "ENST00000575206.1",
"protein_id": "ENSP00000458811.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR81",
"gene_hgnc_id": 26600,
"dbsnp": "rs369748157",
"frequency_reference_population": 0.0004435372,
"hom_count_reference_population": 4,
"allele_count_reference_population": 704,
"gnomad_exomes_af": 0.000450903,
"gnomad_genomes_af": 0.000374158,
"gnomad_exomes_ac": 647,
"gnomad_genomes_ac": 57,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01332634687423706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0673,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.055,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000409644.6",
"gene_symbol": "WDR81",
"hgnc_id": 26600,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3115G>A",
"hgvs_p": "p.Ala1039Thr"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000576540.1",
"gene_symbol": "ENSG00000262791",
"hgnc_id": 58142,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.296-2163C>T",
"hgvs_p": null
}
],
"clinvar_disease": " and dysequilibrium syndrome 2, intellectual disability,Cerebellar ataxia,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not provided|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2|Inborn genetic diseases|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}