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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: 9-137048999-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137048999&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENTPD2",
"hgnc_id": 3364,
"hgvs_c": "c.1226T>G",
"hgvs_p": "p.Leu409Arg",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_203468.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8364,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9723392724990845,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 495,
"aa_ref": "L",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_203468.3",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.1226T>G",
"hgvs_p": "p.Leu409Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355097.7",
"protein_coding": true,
"protein_id": "NP_982293.1",
"strand": false,
"transcript": "NM_203468.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 495,
"aa_ref": "L",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000355097.7",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.1226T>G",
"hgvs_p": "p.Leu409Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203468.3",
"protein_coding": true,
"protein_id": "ENSP00000347213.2",
"strand": false,
"transcript": "ENST00000355097.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 472,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1500,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000312665.7",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.1157T>G",
"hgvs_p": "p.Leu386Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312494.5",
"strand": false,
"transcript": "ENST00000312665.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000460614.1",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "n.615T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000460614.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 472,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001246.4",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.1157T>G",
"hgvs_p": "p.Leu386Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001237.1",
"strand": false,
"transcript": "NM_001246.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1233,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902978.1",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.971T>G",
"hgvs_p": "p.Leu324Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573037.1",
"strand": false,
"transcript": "ENST00000902978.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 384,
"aa_ref": "L",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1155,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902980.1",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.893T>G",
"hgvs_p": "p.Leu298Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573039.1",
"strand": false,
"transcript": "ENST00000902980.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 370,
"aa_ref": "L",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1113,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902981.1",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.851T>G",
"hgvs_p": "p.Leu284Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573040.1",
"strand": false,
"transcript": "ENST00000902981.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 392,
"aa_ref": "L",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1179,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011519212.3",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.917T>G",
"hgvs_p": "p.Leu306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517514.1",
"strand": false,
"transcript": "XM_011519212.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902979.1",
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"hgvs_c": "c.1150-139T>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573038.1",
"strand": false,
"transcript": "ENST00000902979.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1044540301",
"effect": "missense_variant",
"frequency_reference_population": 7.218778e-7,
"gene_hgnc_id": 3364,
"gene_symbol": "ENTPD2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.21878e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.408,
"pos": 137048999,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.366,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_203468.3"
}
]
}