← Back to variant description
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: 16-80604518-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=80604518&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CDYL2",
"hgnc_id": 23030,
"hgvs_c": "c.1391G>C",
"hgvs_p": "p.Arg464Pro",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_152342.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9995,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9158887267112732,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8427,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_152342.4",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1391G>C",
"hgvs_p": "p.Arg464Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000570137.7",
"protein_coding": true,
"protein_id": "NP_689555.2",
"strand": false,
"transcript": "NM_152342.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8427,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000570137.7",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1391G>C",
"hgvs_p": "p.Arg464Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152342.4",
"protein_coding": true,
"protein_id": "ENSP00000476295.1",
"strand": false,
"transcript": "ENST00000570137.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000562812.5",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1394G>C",
"hgvs_p": "p.Arg465Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454546.1",
"strand": false,
"transcript": "ENST00000562812.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000563890.5",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1394G>C",
"hgvs_p": "p.Arg465Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455111.1",
"strand": false,
"transcript": "ENST00000563890.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1394,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000566173.3",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1394G>C",
"hgvs_p": "p.Arg465Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456934.1",
"strand": false,
"transcript": "ENST00000566173.3",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 458,
"aa_ref": "R",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8254,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1247,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919359.1",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1247G>C",
"hgvs_p": "p.Arg416Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589418.1",
"strand": false,
"transcript": "ENST00000919359.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 540,
"aa_ref": "R",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8113,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011522866.2",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1493G>C",
"hgvs_p": "p.Arg498Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521168.1",
"strand": false,
"transcript": "XM_011522866.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8664,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011522867.3",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1382G>C",
"hgvs_p": "p.Arg461Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521169.1",
"strand": false,
"transcript": "XM_011522867.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8197,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024450151.2",
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"hgvs_c": "c.1214G>C",
"hgvs_p": "p.Arg405Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305919.1",
"strand": false,
"transcript": "XM_024450151.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs761338715",
"effect": "missense_variant",
"frequency_reference_population": 6.84046e-7,
"gene_hgnc_id": 23030,
"gene_symbol": "CDYL2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 80604518,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.835,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_152342.4"
}
]
}