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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: 19-50328504-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50328504&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50328504,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_004977.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC3",
"gene_hgnc_id": 6235,
"hgvs_c": "c.579C>G",
"hgvs_p": "p.Arg193Arg",
"transcript": "NM_004977.3",
"protein_id": "NP_004968.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 757,
"cds_start": 579,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": "ENST00000477616.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004977.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC3",
"gene_hgnc_id": 6235,
"hgvs_c": "c.579C>G",
"hgvs_p": "p.Arg193Arg",
"transcript": "ENST00000477616.2",
"protein_id": "ENSP00000434241.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 757,
"cds_start": 579,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": "NM_004977.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477616.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC3",
"gene_hgnc_id": 6235,
"hgvs_c": "c.579C>G",
"hgvs_p": "p.Arg193Arg",
"transcript": "ENST00000670667.1",
"protein_id": "ENSP00000499301.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 768,
"cds_start": 579,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000670667.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC3",
"gene_hgnc_id": 6235,
"hgvs_c": "c.579C>G",
"hgvs_p": "p.Arg193Arg",
"transcript": "ENST00000376959.6",
"protein_id": "ENSP00000366158.2",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 728,
"cds_start": 579,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 5447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376959.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNC3",
"gene_hgnc_id": 6235,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Arg117Arg",
"transcript": "NM_001372305.1",
"protein_id": "NP_001359234.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 681,
"cds_start": 351,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNC3",
"gene_hgnc_id": 6235,
"hgvs_c": "c.-75+4965C>G",
"hgvs_p": null,
"transcript": "ENST00000474951.1",
"protein_id": "ENSP00000432438.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNC3",
"gene_hgnc_id": 6235,
"hgvs_c": "n.68+4965C>G",
"hgvs_p": null,
"transcript": "NR_110912.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110912.2"
}
],
"gene_symbol": "KCNC3",
"gene_hgnc_id": 6235,
"dbsnp": "rs138237939",
"frequency_reference_population": 0.0003266817,
"hom_count_reference_population": 1,
"allele_count_reference_population": 526,
"gnomad_exomes_af": 0.000338044,
"gnomad_genomes_af": 0.000217477,
"gnomad_exomes_ac": 493,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"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": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.56,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004977.3",
"gene_symbol": "KCNC3",
"hgnc_id": 6235,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.579C>G",
"hgvs_p": "p.Arg193Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}