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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: 9-113389085-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113389085&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 113389085,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000409155.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Val275Leu",
"transcript": "NM_000031.6",
"protein_id": "NP_000022.3",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 330,
"cds_start": 823,
"cds_end": null,
"cds_length": 993,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": "ENST00000409155.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Val275Leu",
"transcript": "ENST00000409155.8",
"protein_id": "ENSP00000386284.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 330,
"cds_start": 823,
"cds_end": null,
"cds_length": 993,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": "NM_000031.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Val304Leu",
"transcript": "NM_001003945.3",
"protein_id": "NP_001003945.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 359,
"cds_start": 910,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.799G>C",
"hgvs_p": "p.Val267Leu",
"transcript": "NM_001317745.2",
"protein_id": "NP_001304674.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 322,
"cds_start": 799,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Val317Leu",
"transcript": "XM_047422944.1",
"protein_id": "XP_047278900.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 372,
"cds_start": 949,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Val317Leu",
"transcript": "XM_047422945.1",
"protein_id": "XP_047278901.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 372,
"cds_start": 949,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 5383,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Val304Leu",
"transcript": "XM_047422946.1",
"protein_id": "XP_047278902.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 359,
"cds_start": 910,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Val284Leu",
"transcript": "XM_011518364.3",
"protein_id": "XP_011516666.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 339,
"cds_start": 850,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "XM_047422947.1",
"protein_id": "XP_047278903.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 267,
"cds_start": 634,
"cds_end": null,
"cds_length": 804,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 2941,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"hgvs_c": "n.1096G>C",
"hgvs_p": null,
"transcript": "ENST00000482847.5",
"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": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALAD",
"gene_hgnc_id": 395,
"dbsnp": "rs121912981",
"frequency_reference_population": 6.8416114e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84161e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9142123460769653,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.759,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5265,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.685,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409155.8",
"gene_symbol": "ALAD",
"hgnc_id": 395,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Val275Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}