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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: 11-17386999-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17386999&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17386999,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000339994.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "NM_000525.4",
"protein_id": "NP_000516.3",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 390,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000339994.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys",
"transcript": "ENST00000339994.5",
"protein_id": "ENSP00000345708.4",
"transcript_support_level": 6,
"aa_start": 365,
"aa_end": null,
"aa_length": 390,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_000525.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000528731.1",
"protein_id": "ENSP00000434755.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 303,
"cds_start": 832,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "NM_001166290.2",
"protein_id": "NP_001159762.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 303,
"cds_start": 832,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "NM_001377296.1",
"protein_id": "NP_001364225.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 303,
"cds_start": 832,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "NM_001377297.1",
"protein_id": "NP_001364226.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 303,
"cds_start": 832,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000682350.1",
"protein_id": "ENSP00000508090.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 303,
"cds_start": 832,
"cds_end": null,
"cds_length": 912,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000682764.1",
"protein_id": "ENSP00000506780.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 303,
"cds_start": 832,
"cds_end": null,
"cds_length": 912,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"hgvs_c": "n.-249C>T",
"hgvs_p": null,
"transcript": "ENST00000526747.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"dbsnp": "rs758749160",
"frequency_reference_population": 0.00006320595,
"hom_count_reference_population": 0,
"allele_count_reference_population": 102,
"gnomad_exomes_af": 0.0000636312,
"gnomad_genomes_af": 0.0000591234,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41592562198638916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.493,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1531,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.509,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000339994.5",
"gene_symbol": "KCNJ11",
"hgnc_id": 6257,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1093C>T",
"hgvs_p": "p.Arg365Cys"
}
],
"clinvar_disease": " 2, 3, familial, permanent neonatal 2, transient neonatal,Diabetes mellitus,Hyperinsulinemic hypoglycemia,Maturity onset diabetes mellitus in young,Maturity-onset diabetes of the young type 13,Permanent neonatal diabetes mellitus 1,Type 2 diabetes mellitus,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "not provided|not specified|Diabetes mellitus, permanent neonatal 2;Hyperinsulinemic hypoglycemia, familial, 2;Maturity-onset diabetes of the young type 13;Diabetes mellitus, transient neonatal, 3;Type 2 diabetes mellitus|Maturity onset diabetes mellitus in young|Permanent neonatal diabetes mellitus 1;Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, transient neonatal, 3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}