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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: 11-17387076-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17387076&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17387076,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000525.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"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.1016T>G",
"hgvs_p": "p.Val339Gly",
"transcript": "NM_000525.4",
"protein_id": "NP_000516.3",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339994.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000525.4"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.1016T>G",
"hgvs_p": "p.Val339Gly",
"transcript": "ENST00000339994.5",
"protein_id": "ENSP00000345708.4",
"transcript_support_level": 6,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000525.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339994.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.755T>G",
"hgvs_p": "p.Val252Gly",
"transcript": "ENST00000528731.1",
"protein_id": "ENSP00000434755.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 755,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528731.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.1016T>G",
"hgvs_p": "p.Val339Gly",
"transcript": "ENST00000948565.1",
"protein_id": "ENSP00000618624.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948565.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.755T>G",
"hgvs_p": "p.Val252Gly",
"transcript": "NM_001166290.2",
"protein_id": "NP_001159762.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 755,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166290.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.755T>G",
"hgvs_p": "p.Val252Gly",
"transcript": "NM_001377296.1",
"protein_id": "NP_001364225.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 755,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377296.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.755T>G",
"hgvs_p": "p.Val252Gly",
"transcript": "NM_001377297.1",
"protein_id": "NP_001364226.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 755,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377297.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.755T>G",
"hgvs_p": "p.Val252Gly",
"transcript": "ENST00000682350.1",
"protein_id": "ENSP00000508090.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 755,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682350.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"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.755T>G",
"hgvs_p": "p.Val252Gly",
"transcript": "ENST00000682764.1",
"protein_id": "ENSP00000506780.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 755,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682764.1"
}
],
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"dbsnp": "rs138125678",
"frequency_reference_population": 0.0000049560645,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478835,
"gnomad_genomes_af": 0.00000656582,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9641351699829102,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.968,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4281,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000525.4",
"gene_symbol": "KCNJ11",
"hgnc_id": 6257,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1016T>G",
"hgvs_p": "p.Val339Gly"
}
],
"clinvar_disease": " 2, 3, familial, transient neonatal,Diabetes mellitus,Hyperinsulinemic hypoglycemia,KCNJ11-related disorder,Maturity onset diabetes mellitus in young,Maturity-onset diabetes of the young type 13,Permanent neonatal diabetes mellitus,Permanent neonatal diabetes mellitus 1,Type 2 diabetes mellitus",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Type 2 diabetes mellitus;Maturity-onset diabetes of the young type 13;Hyperinsulinemic hypoglycemia, familial, 2;Permanent neonatal diabetes mellitus;Diabetes mellitus, transient neonatal, 3|Maturity onset diabetes mellitus in young|KCNJ11-related disorder|Hyperinsulinemic hypoglycemia, familial, 2;Diabetes mellitus, transient neonatal, 3;Permanent neonatal diabetes mellitus 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}