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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: 21-43417585-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43417585&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43417585,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_173354.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK1",
"gene_hgnc_id": 11142,
"hgvs_c": "c.1934G>C",
"hgvs_p": "p.Arg645Pro",
"transcript": "NM_173354.5",
"protein_id": "NP_775490.2",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 783,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270162.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173354.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK1",
"gene_hgnc_id": 11142,
"hgvs_c": "c.1934G>C",
"hgvs_p": "p.Arg645Pro",
"transcript": "ENST00000270162.8",
"protein_id": "ENSP00000270162.6",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 783,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173354.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270162.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK1",
"gene_hgnc_id": 11142,
"hgvs_c": "c.1787G>C",
"hgvs_p": "p.Arg596Pro",
"transcript": "ENST00000880890.1",
"protein_id": "ENSP00000550949.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 734,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880890.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK1",
"gene_hgnc_id": 11142,
"hgvs_c": "c.1652G>C",
"hgvs_p": "p.Arg551Pro",
"transcript": "ENST00000880889.1",
"protein_id": "ENSP00000550948.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 689,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880889.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIK1",
"gene_hgnc_id": 11142,
"hgvs_c": "c.1787G>C",
"hgvs_p": "p.Arg596Pro",
"transcript": "XM_011529474.3",
"protein_id": "XP_011527776.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 734,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529474.3"
}
],
"gene_symbol": "SIK1",
"gene_hgnc_id": 11142,
"dbsnp": "rs34614061",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4770764410495758,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
"alphamissense_score": 0.1318,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.685,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_173354.5",
"gene_symbol": "SIK1",
"hgnc_id": 11142,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1934G>C",
"hgvs_p": "p.Arg645Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}