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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: 15-90084341-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90084341&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90084341,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002168.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.Asn428Asn",
"transcript": "NM_002168.4",
"protein_id": "NP_002159.2",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 452,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330062.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002168.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.Asn428Asn",
"transcript": "ENST00000330062.8",
"protein_id": "ENSP00000331897.4",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 452,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002168.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330062.8"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1368C>T",
"hgvs_p": "p.Asn456Asn",
"transcript": "ENST00000864224.1",
"protein_id": "ENSP00000534283.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 480,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864224.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1353C>T",
"hgvs_p": "p.Asn451Asn",
"transcript": "ENST00000864227.1",
"protein_id": "ENSP00000534286.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 475,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864227.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Asn427Asn",
"transcript": "ENST00000864229.1",
"protein_id": "ENSP00000534288.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 451,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864229.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1278C>T",
"hgvs_p": "p.Asn426Asn",
"transcript": "ENST00000864223.1",
"protein_id": "ENSP00000534282.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 450,
"cds_start": 1278,
"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": "ENST00000864223.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1257C>T",
"hgvs_p": "p.Asn419Asn",
"transcript": "ENST00000864228.1",
"protein_id": "ENSP00000534287.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 443,
"cds_start": 1257,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864228.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1251C>T",
"hgvs_p": "p.Asn417Asn",
"transcript": "ENST00000864225.1",
"protein_id": "ENSP00000534284.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 441,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864225.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1191C>T",
"hgvs_p": "p.Asn397Asn",
"transcript": "ENST00000864221.1",
"protein_id": "ENSP00000534280.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 421,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864221.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1173C>T",
"hgvs_p": "p.Asn391Asn",
"transcript": "ENST00000948834.1",
"protein_id": "ENSP00000618893.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 415,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948834.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1167C>T",
"hgvs_p": "p.Asn389Asn",
"transcript": "ENST00000948835.1",
"protein_id": "ENSP00000618894.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 413,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948835.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Asn384Asn",
"transcript": "ENST00000864226.1",
"protein_id": "ENSP00000534285.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 408,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864226.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1140C>T",
"hgvs_p": "p.Asn380Asn",
"transcript": "ENST00000864222.1",
"protein_id": "ENSP00000534281.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 404,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864222.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Asn376Asn",
"transcript": "NM_001289910.1",
"protein_id": "NP_001276839.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 400,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289910.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.1128C>T",
"hgvs_p": "p.Asn376Asn",
"transcript": "ENST00000540499.2",
"protein_id": "ENSP00000446147.2",
"transcript_support_level": 2,
"aa_start": 376,
"aa_end": null,
"aa_length": 400,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540499.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Asn298Asn",
"transcript": "NM_001290114.2",
"protein_id": "NP_001277043.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 322,
"cds_start": 894,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290114.2"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "c.864C>T",
"hgvs_p": "p.Asn288Asn",
"transcript": "ENST00000559482.5",
"protein_id": "ENSP00000453016.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 312,
"cds_start": 864,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559482.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "n.*909C>T",
"hgvs_p": null,
"transcript": "ENST00000560061.1",
"protein_id": "ENSP00000453254.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000560061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"hgvs_c": "n.*909C>T",
"hgvs_p": null,
"transcript": "ENST00000560061.1",
"protein_id": "ENSP00000453254.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000560061.1"
}
],
"gene_symbol": "IDH2",
"gene_hgnc_id": 5383,
"dbsnp": "rs191547948",
"frequency_reference_population": 0.000030981122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000314723,
"gnomad_genomes_af": 0.0000262671,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.59,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002168.4",
"gene_symbol": "IDH2",
"hgnc_id": 5383,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1284C>T",
"hgvs_p": "p.Asn428Asn"
}
],
"clinvar_disease": "D-2-hydroxyglutaric aciduria 2",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "D-2-hydroxyglutaric aciduria 2",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}