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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: 11-17387075-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17387075&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17387075,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000339994.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1017G>A",
"hgvs_p": "p.Val339Val",
"transcript": "NM_000525.4",
"protein_id": "NP_000516.3",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "ENST00000339994.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1017G>A",
"hgvs_p": "p.Val339Val",
"transcript": "ENST00000339994.5",
"protein_id": "ENSP00000345708.4",
"transcript_support_level": 6,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": "NM_000525.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.756G>A",
"hgvs_p": "p.Val252Val",
"transcript": "ENST00000528731.1",
"protein_id": "ENSP00000434755.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 756,
"cds_end": null,
"cds_length": 912,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.756G>A",
"hgvs_p": "p.Val252Val",
"transcript": "NM_001166290.2",
"protein_id": "NP_001159762.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 756,
"cds_end": null,
"cds_length": 912,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.756G>A",
"hgvs_p": "p.Val252Val",
"transcript": "NM_001377296.1",
"protein_id": "NP_001364225.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 756,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.756G>A",
"hgvs_p": "p.Val252Val",
"transcript": "NM_001377297.1",
"protein_id": "NP_001364226.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 756,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.756G>A",
"hgvs_p": "p.Val252Val",
"transcript": "ENST00000682350.1",
"protein_id": "ENSP00000508090.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 756,
"cds_end": null,
"cds_length": 912,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.756G>A",
"hgvs_p": "p.Val252Val",
"transcript": "ENST00000682764.1",
"protein_id": "ENSP00000506780.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 303,
"cds_start": 756,
"cds_end": null,
"cds_length": 912,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNJ11",
"gene_hgnc_id": 6257,
"dbsnp": "rs770408379",
"frequency_reference_population": 0.0000061954565,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615646,
"gnomad_genomes_af": 0.00000657004,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"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": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.614,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000339994.5",
"gene_symbol": "KCNJ11",
"hgnc_id": 6257,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1017G>A",
"hgvs_p": "p.Val339Val"
}
],
"clinvar_disease": "Maturity onset diabetes mellitus in young,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Maturity onset diabetes mellitus in young",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}