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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: 18-36251226-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36251226&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 36251226,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017947.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.His703Asn",
"transcript": "NM_017947.4",
"protein_id": "NP_060417.4",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 888,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261326.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017947.4"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.His703Asn",
"transcript": "ENST00000261326.6",
"protein_id": "ENSP00000261326.4",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 888,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017947.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261326.6"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.His703Asn",
"transcript": "ENST00000880903.1",
"protein_id": "ENSP00000550962.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 906,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880903.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.2017C>A",
"hgvs_p": "p.His673Asn",
"transcript": "ENST00000880908.1",
"protein_id": "ENSP00000550967.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 858,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880908.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.1990C>A",
"hgvs_p": "p.His664Asn",
"transcript": "ENST00000880907.1",
"protein_id": "ENSP00000550966.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 849,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880907.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.1888C>A",
"hgvs_p": "p.His630Asn",
"transcript": "ENST00000880901.1",
"protein_id": "ENSP00000550960.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 815,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880901.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.1645C>A",
"hgvs_p": "p.His549Asn",
"transcript": "ENST00000880902.1",
"protein_id": "ENSP00000550961.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 734,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880902.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.1528C>A",
"hgvs_p": "p.His510Asn",
"transcript": "ENST00000880904.1",
"protein_id": "ENSP00000550963.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 695,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880904.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.1465C>A",
"hgvs_p": "p.His489Asn",
"transcript": "ENST00000948181.1",
"protein_id": "ENSP00000618240.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 674,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948181.1"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.289C>A",
"hgvs_p": "p.His97Asn",
"transcript": "ENST00000880905.1",
"protein_id": "ENSP00000550964.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 282,
"cds_start": 289,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880905.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"hgvs_c": "c.1961-5742C>A",
"hgvs_p": null,
"transcript": "ENST00000880906.1",
"protein_id": "ENSP00000550965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": null,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880906.1"
}
],
"gene_symbol": "MOCOS",
"gene_hgnc_id": 18234,
"dbsnp": "rs594445",
"frequency_reference_population": 0.27763584,
"hom_count_reference_population": 64313,
"allele_count_reference_population": 447986,
"gnomad_exomes_af": 0.282241,
"gnomad_genomes_af": 0.233375,
"gnomad_exomes_ac": 412499,
"gnomad_genomes_ac": 35487,
"gnomad_exomes_homalt": 59509,
"gnomad_genomes_homalt": 4804,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0060777366161346436,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.065,
"revel_prediction": "Benign",
"alphamissense_score": 0.1047,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.579,
"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": -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": "NM_017947.4",
"gene_symbol": "MOCOS",
"hgnc_id": 18234,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2107C>A",
"hgvs_p": "p.His703Asn"
}
],
"clinvar_disease": "Xanthinuria type II,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Xanthinuria type II|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}