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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: 20-56369735-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=56369735&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 56369735,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000395915.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_198437.3",
"protein_id": "NP_940839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": "ENST00000395915.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "ENST00000395915.8",
"protein_id": "ENSP00000379251.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": "NM_198437.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "ENST00000312783.10",
"protein_id": "ENSP00000321591.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "ENST00000347343.6",
"protein_id": "ENSP00000216911.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "ENST00000371356.6",
"protein_id": "ENSP00000360407.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "ENST00000395913.7",
"protein_id": "ENSP00000379249.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "ENST00000395914.5",
"protein_id": "ENSP00000379250.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_001424418.1",
"protein_id": "NP_001411347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_001424419.1",
"protein_id": "NP_001411348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_001424420.1",
"protein_id": "NP_001411349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": -4,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_001323303.2",
"protein_id": "NP_001310232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2368,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_001323304.2",
"protein_id": "NP_001310233.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_001323305.2",
"protein_id": "NP_001310234.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_001424417.1",
"protein_id": "NP_001411346.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"intron_rank": null,
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"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_003600.4",
"protein_id": "NP_003591.2",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_198433.3",
"protein_id": "NP_940835.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
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],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_198434.3",
"protein_id": "NP_940836.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_198435.3",
"protein_id": "NP_940837.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2047,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "AURKA",
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"hgvs_c": "c.*423G>A",
"hgvs_p": null,
"transcript": "NM_198436.3",
"protein_id": "NP_940838.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"intron_rank": null,
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"gene_symbol": "AURKA",
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"hgvs_c": "c.*423G>A",
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"transcript": "ENST00000395911.5",
"protein_id": "ENSP00000379247.1",
"transcript_support_level": 5,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"hgvs_c": "c.*735G>A",
"hgvs_p": null,
"transcript": "ENST00000395907.5",
"protein_id": "ENSP00000379243.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 347,
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"cds_length": 1044,
"cdna_start": null,
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"cdna_length": 1902,
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"feature": null
}
],
"gene_symbol": "AURKA",
"gene_hgnc_id": 11393,
"dbsnp": "rs8173",
"frequency_reference_population": 0.00018734537,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000805863,
"gnomad_genomes_af": 0.0003355,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 51,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.631,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000395915.8",
"gene_symbol": "AURKA",
"hgnc_id": 11393,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*423G>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
}