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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: 9-137048820-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137048820&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137048820,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_203468.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1325T>G",
"hgvs_p": "p.Leu442Arg",
"transcript": "NM_203468.3",
"protein_id": "NP_982293.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 495,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355097.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203468.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1325T>G",
"hgvs_p": "p.Leu442Arg",
"transcript": "ENST00000355097.7",
"protein_id": "ENSP00000347213.2",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 495,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203468.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355097.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1256T>G",
"hgvs_p": "p.Leu419Arg",
"transcript": "ENST00000312665.7",
"protein_id": "ENSP00000312494.5",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 472,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312665.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "n.714T>G",
"hgvs_p": null,
"transcript": "ENST00000460614.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460614.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1256T>G",
"hgvs_p": "p.Leu419Arg",
"transcript": "NM_001246.4",
"protein_id": "NP_001237.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 472,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001246.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1190T>G",
"hgvs_p": "p.Leu397Arg",
"transcript": "ENST00000902979.1",
"protein_id": "ENSP00000573038.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 450,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902979.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "ENST00000902978.1",
"protein_id": "ENSP00000573037.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 410,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902978.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Leu331Arg",
"transcript": "ENST00000902980.1",
"protein_id": "ENSP00000573039.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 384,
"cds_start": 992,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902980.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.950T>G",
"hgvs_p": "p.Leu317Arg",
"transcript": "ENST00000902981.1",
"protein_id": "ENSP00000573040.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 370,
"cds_start": 950,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902981.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"hgvs_c": "c.1016T>G",
"hgvs_p": "p.Leu339Arg",
"transcript": "XM_011519212.3",
"protein_id": "XP_011517514.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 392,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519212.3"
}
],
"gene_symbol": "ENTPD2",
"gene_hgnc_id": 3364,
"dbsnp": "rs778985603",
"frequency_reference_population": 7.06539e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.06539e-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": 0.9466400146484375,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.568,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8671,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.142,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_203468.3",
"gene_symbol": "ENTPD2",
"hgnc_id": 3364,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1325T>G",
"hgvs_p": "p.Leu442Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}