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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: 15-53710894-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=53710894&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 53710894,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000360509.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "NM_182758.4",
"protein_id": "NP_877435.3",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1102,
"cds_start": 917,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 7310,
"mane_select": "ENST00000360509.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "ENST00000360509.10",
"protein_id": "ENSP00000353699.5",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 1102,
"cds_start": 917,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 7310,
"mane_select": "NM_182758.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "ENST00000396328.5",
"protein_id": "ENSP00000379619.1",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 1102,
"cds_start": 917,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Pro318Leu",
"transcript": "ENST00000559418.5",
"protein_id": "ENSP00000452765.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 1112,
"cds_start": 953,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Pro305Leu",
"transcript": "ENST00000557913.5",
"protein_id": "ENSP00000453378.1",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 1099,
"cds_start": 914,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "ENST00000560036.1",
"protein_id": "ENSP00000453813.1",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 774,
"cds_start": 917,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "XM_017022061.2",
"protein_id": "XP_016877550.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1102,
"cds_start": 917,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 7468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "XM_047432342.1",
"protein_id": "XP_047288298.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1102,
"cds_start": 917,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "XM_047432343.1",
"protein_id": "XP_047288299.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1102,
"cds_start": 917,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 7391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "XM_047432344.1",
"protein_id": "XP_047288300.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1102,
"cds_start": 917,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 7461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "XM_011521436.3",
"protein_id": "XP_011519738.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1096,
"cds_start": 917,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 7292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Pro266Leu",
"transcript": "XM_047432345.1",
"protein_id": "XP_047288301.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1062,
"cds_start": 797,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 7422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"hgvs_c": "n.1157C>T",
"hgvs_p": null,
"transcript": "NR_102334.2",
"protein_id": null,
"transcript_support_level": null,
"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": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR72",
"gene_hgnc_id": 26790,
"dbsnp": "rs551225",
"frequency_reference_population": 0.45577082,
"hom_count_reference_population": 173557,
"allele_count_reference_population": 734688,
"gnomad_exomes_af": 0.463622,
"gnomad_genomes_af": 0.38041,
"gnomad_exomes_ac": 676833,
"gnomad_genomes_ac": 57855,
"gnomad_exomes_homalt": 161163,
"gnomad_genomes_homalt": 12394,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017650723457336426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.287,
"revel_prediction": "Benign",
"alphamissense_score": 0.5049,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.452,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000360509.10",
"gene_symbol": "WDR72",
"hgnc_id": 26790,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu"
}
],
"clinvar_disease": " Recessive,Amelogenesis Imperfecta,Amelogenesis imperfecta hypomaturation type 2A3,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|Amelogenesis Imperfecta, Recessive|not provided|Amelogenesis imperfecta hypomaturation type 2A3",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}