← Back to variant description
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: X-156005413-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=156005413&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 156005413,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002186.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.715G>C",
"hgvs_p": "p.Glu239Gln",
"transcript": "NM_002186.3",
"protein_id": "NP_002177.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 521,
"cds_start": 715,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244174.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002186.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.715G>C",
"hgvs_p": "p.Glu239Gln",
"transcript": "ENST00000244174.11",
"protein_id": "ENSP00000244174.5",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 521,
"cds_start": 715,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002186.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244174.11"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Glu274Gln",
"transcript": "ENST00000369423.8",
"protein_id": "ENSP00000358431.2",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 342,
"cds_start": 820,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369423.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.484G>C",
"hgvs_p": "p.Glu162Gln",
"transcript": "ENST00000858259.1",
"protein_id": "ENSP00000528318.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 444,
"cds_start": 484,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858259.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Glu274Gln",
"transcript": "NM_176786.2",
"protein_id": "NP_789743.2",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 342,
"cds_start": 820,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176786.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Glu286Gln",
"transcript": "XM_011531151.3",
"protein_id": "XP_011529453.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 568,
"cds_start": 856,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531151.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.853G>C",
"hgvs_p": "p.Glu285Gln",
"transcript": "XM_017029495.2",
"protein_id": "XP_016884984.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 567,
"cds_start": 853,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029495.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.832G>C",
"hgvs_p": "p.Glu278Gln",
"transcript": "XM_011531152.3",
"protein_id": "XP_011529454.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 560,
"cds_start": 832,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531152.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Glu242Gln",
"transcript": "XM_047442092.1",
"protein_id": "XP_047298048.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 524,
"cds_start": 724,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442092.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Glu286Gln",
"transcript": "XM_011531155.3",
"protein_id": "XP_011529457.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 460,
"cds_start": 856,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531155.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.853G>C",
"hgvs_p": "p.Glu285Gln",
"transcript": "XM_047442093.1",
"protein_id": "XP_047298049.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 459,
"cds_start": 853,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442093.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.832G>C",
"hgvs_p": "p.Glu278Gln",
"transcript": "XM_047442094.1",
"protein_id": "XP_047298050.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 441,
"cds_start": 832,
"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": "XM_047442094.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.310G>C",
"hgvs_p": "p.Glu104Gln",
"transcript": "XM_017029502.2",
"protein_id": "XP_016884991.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 386,
"cds_start": 310,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029502.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.856G>C",
"hgvs_p": "p.Glu286Gln",
"transcript": "XM_011531157.3",
"protein_id": "XP_011529459.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 354,
"cds_start": 856,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531157.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Glu277Gln",
"transcript": "XM_047442095.1",
"protein_id": "XP_047298051.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 345,
"cds_start": 829,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442095.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000270726",
"gene_hgnc_id": null,
"hgvs_c": "n.348+848G>C",
"hgvs_p": null,
"transcript": "ENST00000483543.7",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000483543.7"
}
],
"gene_symbol": "IL9R",
"gene_hgnc_id": 6030,
"dbsnp": "rs6522",
"frequency_reference_population": 0.0012087746,
"hom_count_reference_population": 767,
"allele_count_reference_population": 1950,
"gnomad_exomes_af": 0.000698841,
"gnomad_genomes_af": 0.00610325,
"gnomad_exomes_ac": 1021,
"gnomad_genomes_ac": 929,
"gnomad_exomes_homalt": 15,
"gnomad_genomes_homalt": 10,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0034928321838378906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.1481,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.023,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002186.3",
"gene_symbol": "IL9R",
"hgnc_id": 6030,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.715G>C",
"hgvs_p": "p.Glu239Gln"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000483543.7",
"gene_symbol": "ENSG00000270726",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.348+848G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}