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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: 9-113368445-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113368445&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 113368445,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001317943.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.682+62T>C",
"hgvs_p": null,
"transcript": "NM_017688.3",
"protein_id": "NP_060158.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374183.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017688.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.682+62T>C",
"hgvs_p": null,
"transcript": "ENST00000374183.5",
"protein_id": "ENSP00000363298.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": null,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017688.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374183.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "n.596-1171T>C",
"hgvs_p": null,
"transcript": "ENST00000462085.1",
"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": "pseudogene",
"feature": "ENST00000462085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.697+62T>C",
"hgvs_p": null,
"transcript": "NM_001317943.2",
"protein_id": "NP_001304872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317943.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.679+62T>C",
"hgvs_p": null,
"transcript": "ENST00000886063.1",
"protein_id": "ENSP00000556122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886063.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.682+62T>C",
"hgvs_p": null,
"transcript": "ENST00000886064.1",
"protein_id": "ENSP00000556123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": null,
"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": "ENST00000886064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.676+62T>C",
"hgvs_p": null,
"transcript": "ENST00000921760.1",
"protein_id": "ENSP00000591819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": null,
"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": "ENST00000921760.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.679+62T>C",
"hgvs_p": null,
"transcript": "ENST00000952340.1",
"protein_id": "ENSP00000622399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952340.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.640+62T>C",
"hgvs_p": null,
"transcript": "ENST00000921758.1",
"protein_id": "ENSP00000591817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.583+62T>C",
"hgvs_p": null,
"transcript": "ENST00000921757.1",
"protein_id": "ENSP00000591816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.580+62T>C",
"hgvs_p": null,
"transcript": "ENST00000886065.1",
"protein_id": "ENSP00000556124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": null,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.583+62T>C",
"hgvs_p": null,
"transcript": "ENST00000952341.1",
"protein_id": "ENSP00000622400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": null,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952341.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.451+62T>C",
"hgvs_p": null,
"transcript": "ENST00000921759.1",
"protein_id": "ENSP00000591818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.451+62T>C",
"hgvs_p": null,
"transcript": "ENST00000886066.1",
"protein_id": "ENSP00000556125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.558-1171T>C",
"hgvs_p": null,
"transcript": "NM_001317944.2",
"protein_id": "NP_001304873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317944.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"hgvs_c": "c.679+62T>C",
"hgvs_p": null,
"transcript": "XM_006717149.4",
"protein_id": "XP_006717212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717149.4"
}
],
"gene_symbol": "BSPRY",
"gene_hgnc_id": 18232,
"dbsnp": "rs2296074",
"frequency_reference_population": 0.056592543,
"hom_count_reference_population": 3103,
"allele_count_reference_population": 89368,
"gnomad_exomes_af": 0.0576643,
"gnomad_genomes_af": 0.0465304,
"gnomad_exomes_ac": 82295,
"gnomad_genomes_ac": 7073,
"gnomad_exomes_homalt": 2842,
"gnomad_genomes_homalt": 261,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.183,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001317943.2",
"gene_symbol": "BSPRY",
"hgnc_id": 18232,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.697+62T>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
}