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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: 14-99510485-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99510485&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CCNK",
"hgnc_id": 1596,
"hgvs_c": "c.1446G>C",
"hgvs_p": "p.Pro482Pro",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001099402.2",
"verdict": "Benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "CCDC85C",
"hgnc_id": 35459,
"hgvs_c": "c.*4761C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001144995.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "14",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001099402.2",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1446G>C",
"hgvs_p": "p.Pro482Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389879.9",
"protein_coding": true,
"protein_id": "NP_001092872.1",
"strand": true,
"transcript": "NM_001099402.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000389879.9",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1446G>C",
"hgvs_p": "p.Pro482Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099402.2",
"protein_coding": true,
"protein_id": "ENSP00000374529.5",
"strand": true,
"transcript": "ENST00000389879.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 419,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16564,
"cdna_start": null,
"cds_end": null,
"cds_length": 1260,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001144995.2",
"gene_hgnc_id": 35459,
"gene_symbol": "CCDC85C",
"hgvs_c": "c.*4761C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380243.9",
"protein_coding": true,
"protein_id": "NP_001138467.1",
"strand": false,
"transcript": "NM_001144995.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 419,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16564,
"cdna_start": null,
"cds_end": null,
"cds_length": 1260,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000380243.9",
"gene_hgnc_id": 35459,
"gene_symbol": "CCDC85C",
"hgvs_c": "c.*4761C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144995.2",
"protein_coding": true,
"protein_id": "ENSP00000369592.4",
"strand": false,
"transcript": "ENST00000380243.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555049.5",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1117+3338G>C",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452307.1",
"strand": true,
"transcript": "ENST00000555049.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000553865.1",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "n.4598G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000553865.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000940763.1",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1446G>C",
"hgvs_p": "p.Pro482Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610822.1",
"strand": true,
"transcript": "ENST00000940763.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1431,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000887098.1",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1431G>C",
"hgvs_p": "p.Pro477Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557157.1",
"strand": true,
"transcript": "ENST00000887098.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 568,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000887100.1",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1410G>C",
"hgvs_p": "p.Pro470Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557159.1",
"strand": true,
"transcript": "ENST00000887100.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 556,
"aa_ref": "P",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1374,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887099.1",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1374G>C",
"hgvs_p": "p.Pro458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557158.1",
"strand": true,
"transcript": "ENST00000887099.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005268154.5",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1446G>C",
"hgvs_p": "p.Pro482Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268211.1",
"strand": true,
"transcript": "XM_005268154.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047431839.1",
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"hgvs_c": "c.1446G>C",
"hgvs_p": "p.Pro482Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287795.1",
"strand": true,
"transcript": "XM_047431839.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs746815273",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000009787002,
"gene_hgnc_id": 1596,
"gene_symbol": "CCNK",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.000009787,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 0,
"gnomad_genomes_af": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.071,
"pos": 99510485,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001099402.2"
}
]
}