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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: 13-35871254-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=35871254&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 35871254,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000360631.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "NM_001330071.2",
"protein_id": "NP_001317000.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 740,
"cds_start": 910,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": "ENST00000360631.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "ENST00000360631.8",
"protein_id": "ENSP00000353846.3",
"transcript_support_level": 5,
"aa_start": 304,
"aa_end": null,
"aa_length": 740,
"cds_start": 910,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": "NM_001330071.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "ENST00000255448.8",
"protein_id": "ENSP00000255448.4",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 729,
"cds_start": 910,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "NM_001330072.2",
"protein_id": "NP_001317001.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 740,
"cds_start": 910,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 8295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "NM_004734.5",
"protein_id": "NP_004725.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 729,
"cds_start": 910,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 8468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "NM_001438021.1",
"protein_id": "NP_001424950.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 363,
"cds_start": 910,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 6200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "ENST00000379892.4",
"protein_id": "ENSP00000369222.4",
"transcript_support_level": 5,
"aa_start": 304,
"aa_end": null,
"aa_length": 363,
"cds_start": 910,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "XM_017020847.2",
"protein_id": "XP_016876336.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 708,
"cds_start": 910,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser",
"transcript": "XM_047430767.1",
"protein_id": "XP_047286723.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 363,
"cds_start": 910,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 6101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306415",
"gene_hgnc_id": null,
"hgvs_c": "n.82+13108G>T",
"hgvs_p": null,
"transcript": "ENST00000818218.1",
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105370163",
"gene_hgnc_id": null,
"hgvs_c": "n.82+13108G>T",
"hgvs_p": null,
"transcript": "XR_001749821.2",
"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": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105370163",
"gene_hgnc_id": null,
"hgvs_c": "n.82+13108G>T",
"hgvs_p": null,
"transcript": "XR_941855.3",
"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": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCLK1",
"gene_hgnc_id": 2700,
"dbsnp": "rs777971990",
"frequency_reference_population": 6.840975e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84097e-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": 0.31528109312057495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.8818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.247,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000360631.8",
"gene_symbol": "DCLK1",
"hgnc_id": 2700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Arg304Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000818218.1",
"gene_symbol": "ENSG00000306415",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+13108G>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_941855.3",
"gene_symbol": "LOC105370163",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+13108G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}