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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: 14-99502260-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99502260&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99502260,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001099402.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "NM_001099402.2",
"protein_id": "NP_001092872.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 580,
"cds_start": 629,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389879.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099402.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "ENST00000389879.9",
"protein_id": "ENSP00000374529.5",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 580,
"cds_start": 629,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099402.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389879.9"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "ENST00000555049.5",
"protein_id": "ENSP00000452307.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 378,
"cds_start": 629,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555049.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC85C",
"gene_hgnc_id": 35459,
"hgvs_c": "c.*12986A>C",
"hgvs_p": null,
"transcript": "NM_001144995.2",
"protein_id": "NP_001138467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380243.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144995.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC85C",
"gene_hgnc_id": 35459,
"hgvs_c": "c.*12986A>C",
"hgvs_p": null,
"transcript": "ENST00000380243.9",
"protein_id": "ENSP00000369592.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144995.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380243.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "n.3155T>G",
"hgvs_p": null,
"transcript": "ENST00000553865.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000553865.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "ENST00000940763.1",
"protein_id": "ENSP00000610822.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 580,
"cds_start": 629,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940763.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "ENST00000887098.1",
"protein_id": "ENSP00000557157.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 575,
"cds_start": 629,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887098.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "ENST00000887100.1",
"protein_id": "ENSP00000557159.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 568,
"cds_start": 629,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887100.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "ENST00000887099.1",
"protein_id": "ENSP00000557158.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 556,
"cds_start": 629,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887099.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "ENST00000557441.5",
"protein_id": "ENSP00000450792.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 226,
"cds_start": 629,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557441.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "XM_005268154.5",
"protein_id": "XP_005268211.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 580,
"cds_start": 629,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268154.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly",
"transcript": "XM_047431839.1",
"protein_id": "XP_047287795.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 580,
"cds_start": 629,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"hgvs_c": "n.839T>G",
"hgvs_p": null,
"transcript": "ENST00000557165.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000557165.5"
}
],
"gene_symbol": "CCNK",
"gene_hgnc_id": 1596,
"dbsnp": null,
"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": 0.8700807094573975,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.659,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9668,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.991,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001099402.2",
"gene_symbol": "CCNK",
"hgnc_id": 1596,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.629T>G",
"hgvs_p": "p.Val210Gly"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001144995.2",
"gene_symbol": "CCDC85C",
"hgnc_id": 35459,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*12986A>C",
"hgvs_p": null
}
],
"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
}