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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: 5-114362863-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=114362863&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 114362863,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000673685.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Glu242Gln",
"transcript": "NM_021614.4",
"protein_id": "NP_067627.3",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 791,
"cds_start": 724,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": "ENST00000673685.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Glu242Gln",
"transcript": "ENST00000673685.1",
"protein_id": "ENSP00000501239.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 791,
"cds_start": 724,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": "NM_021614.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Glu308Gln",
"transcript": "NM_001372233.1",
"protein_id": "NP_001359162.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 857,
"cds_start": 922,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Glu308Gln",
"transcript": "ENST00000512097.10",
"protein_id": "ENSP00000427120.4",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 857,
"cds_start": 922,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Glu42Gln",
"transcript": "ENST00000631899.2",
"protein_id": "ENSP00000487849.2",
"transcript_support_level": 5,
"aa_start": 42,
"aa_end": null,
"aa_length": 594,
"cds_start": 124,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Glu308Gln",
"transcript": "XM_011543389.2",
"protein_id": "XP_011541691.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 857,
"cds_start": 922,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "c.892G>C",
"hgvs_p": "p.Glu298Gln",
"transcript": "XM_047417166.1",
"protein_id": "XP_047273122.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 847,
"cds_start": 892,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2669,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "n.794G>C",
"hgvs_p": null,
"transcript": "NR_174097.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2341,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"hgvs_c": "n.-246G>C",
"hgvs_p": null,
"transcript": "ENST00000507750.5",
"protein_id": "ENSP00000516687.1",
"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": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNN2",
"gene_hgnc_id": 6291,
"dbsnp": "rs1554083355",
"frequency_reference_population": 6.907728e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90773e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5745685696601868,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.505,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3644,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.554,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673685.1",
"gene_symbol": "KCNN2",
"hgnc_id": 6291,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Glu242Gln"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}