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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: 9-137048991-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137048991&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137048991,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_203468.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Gly412Arg",
"transcript": "NM_203468.3",
"protein_id": "NP_982293.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 495,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "ENST00000355097.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Gly412Arg",
"transcript": "ENST00000355097.7",
"protein_id": "ENSP00000347213.2",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 495,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "NM_203468.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Gly389Arg",
"transcript": "ENST00000312665.7",
"protein_id": "ENSP00000312494.5",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 472,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1500,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "n.623G>C",
"hgvs_p": null,
"transcript": "ENST00000460614.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Gly389Arg",
"transcript": "NM_001246.4",
"protein_id": "NP_001237.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 472,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.925G>C",
"hgvs_p": "p.Gly309Arg",
"transcript": "XM_011519212.3",
"protein_id": "XP_011517514.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 392,
"cds_start": 925,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"dbsnp": "rs747780229",
"frequency_reference_population": 0.00010148388,
"hom_count_reference_population": 0,
"allele_count_reference_population": 156,
"gnomad_exomes_af": 0.000103257,
"gnomad_genomes_af": 0.000085359,
"gnomad_exomes_ac": 143,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8946872353553772,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.527,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.551,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_203468.3",
"gene_symbol": "ENTPD2",
"hgnc_id": 3364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Gly412Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}