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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: 2-201807870-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201807870&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201807870,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001366386.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "NM_001366386.2",
"protein_id": "NP_001353315.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 435,
"cds_start": 286,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652192.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366386.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "ENST00000652192.3",
"protein_id": "ENSP00000498608.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 435,
"cds_start": 286,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366386.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652192.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "ENST00000450471.6",
"protein_id": "ENSP00000406472.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 429,
"cds_start": 286,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450471.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "ENST00000434439.1",
"protein_id": "ENSP00000412775.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 400,
"cds_start": 286,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434439.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.133C>G",
"hgvs_p": "p.Pro45Ala",
"transcript": "ENST00000260967.6",
"protein_id": "ENSP00000260967.2",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 384,
"cds_start": 133,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260967.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "n.138C>G",
"hgvs_p": null,
"transcript": "ENST00000451080.5",
"protein_id": "ENSP00000389831.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451080.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "NM_001261435.1",
"protein_id": "NP_001248364.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 429,
"cds_start": 286,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261435.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "NM_001261436.1",
"protein_id": "NP_001248365.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 400,
"cds_start": 286,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261436.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.133C>G",
"hgvs_p": "p.Pro45Ala",
"transcript": "NM_139158.2",
"protein_id": "NP_631897.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 384,
"cds_start": 133,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139158.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.133C>G",
"hgvs_p": "p.Pro45Ala",
"transcript": "ENST00000410091.7",
"protein_id": "ENSP00000386901.3",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 384,
"cds_start": 133,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410091.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "XM_011511650.3",
"protein_id": "XP_011509952.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 412,
"cds_start": 286,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511650.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "XM_011511652.2",
"protein_id": "XP_011509954.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 372,
"cds_start": 286,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511652.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "XM_047445552.1",
"protein_id": "XP_047301508.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 351,
"cds_start": 286,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445552.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala",
"transcript": "XM_011511654.3",
"protein_id": "XP_011509956.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 344,
"cds_start": 286,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511654.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "c.-120C>G",
"hgvs_p": null,
"transcript": "XM_047445553.1",
"protein_id": "XP_047301509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "n.372C>G",
"hgvs_p": null,
"transcript": "ENST00000488419.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "n.476C>G",
"hgvs_p": null,
"transcript": "ENST00000493754.5",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493754.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"hgvs_c": "n.414C>G",
"hgvs_p": null,
"transcript": "XR_922991.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_922991.3"
}
],
"gene_symbol": "CDK15",
"gene_hgnc_id": 14434,
"dbsnp": "rs997863043",
"frequency_reference_population": 6.8423975e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8424e-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": 0.4031106233596802,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.305,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0934,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.447,
"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": 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": "NM_001366386.2",
"gene_symbol": "CDK15",
"hgnc_id": 14434,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.286C>G",
"hgvs_p": "p.Pro96Ala"
}
],
"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
}