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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: 13-35810836-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=35810836&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 35810836,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001330071.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "NM_001330071.2",
"protein_id": "NP_001317000.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 740,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": "ENST00000360631.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "ENST00000360631.8",
"protein_id": "ENSP00000353846.3",
"transcript_support_level": 5,
"aa_start": 563,
"aa_end": null,
"aa_length": 740,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": "NM_001330071.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "ENST00000255448.8",
"protein_id": "ENSP00000255448.4",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 729,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "NM_001330072.2",
"protein_id": "NP_001317001.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 740,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 8295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "NM_004734.5",
"protein_id": "NP_004725.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 729,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 8468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Gly256Arg",
"transcript": "NM_001195416.2",
"protein_id": "NP_001182345.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 433,
"cds_start": 766,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 7324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Gly256Arg",
"transcript": "ENST00000379893.5",
"protein_id": "ENSP00000369223.1",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 433,
"cds_start": 766,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Gly256Arg",
"transcript": "NM_001195415.2",
"protein_id": "NP_001182344.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 422,
"cds_start": 766,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 7398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Gly256Arg",
"transcript": "ENST00000615680.5",
"protein_id": "ENSP00000484452.1",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 422,
"cds_start": 766,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "XM_017020847.2",
"protein_id": "XP_016876336.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 708,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"dbsnp": "rs535509328",
"frequency_reference_population": 0.000006571425,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8490115404129028,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6579999923706055,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.607,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9987,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.474,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.954648152734133,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330071.2",
"gene_symbol": "DCLK1",
"hgnc_id": 2700,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}