← 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: 3-112610076-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112610076&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CCDC80",
"hgnc_id": 30649,
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_199511.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9848,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6856852769851685,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12301,
"cdna_start": 3155,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_199511.3",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000206423.8",
"protein_coding": true,
"protein_id": "NP_955805.1",
"strand": false,
"transcript": "NM_199511.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12301,
"cdna_start": 3155,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000206423.8",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_199511.3",
"protein_coding": true,
"protein_id": "ENSP00000206423.3",
"strand": false,
"transcript": "ENST00000206423.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3557,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000439685.6",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411814.2",
"strand": false,
"transcript": "ENST00000439685.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11704,
"cdna_start": 2558,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_199512.3",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955806.1",
"strand": false,
"transcript": "NM_199512.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880155.1",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550214.1",
"strand": false,
"transcript": "ENST00000880155.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 3295,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000962650.1",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632709.1",
"strand": false,
"transcript": "ENST00000962650.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2327,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962651.1",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.2327G>C",
"hgvs_p": "p.Arg776Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632710.1",
"strand": false,
"transcript": "ENST00000962651.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 259,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 781,
"cdna_start": 519,
"cds_end": null,
"cds_length": 780,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000461431.1",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.518G>C",
"hgvs_p": "p.Arg173Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420123.1",
"strand": false,
"transcript": "ENST00000461431.1",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": 205,
"cds_end": null,
"cds_length": 637,
"cds_start": 161,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000479368.1",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.161G>C",
"hgvs_p": "p.Arg54Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418188.1",
"strand": false,
"transcript": "ENST00000479368.1",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 961,
"aa_ref": "R",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11976,
"cdna_start": 2830,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2360,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447495.1",
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"hgvs_c": "c.2360G>C",
"hgvs_p": "p.Arg787Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303451.1",
"strand": false,
"transcript": "XM_047447495.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200219122",
"effect": "missense_variant",
"frequency_reference_population": 6.841967e-7,
"gene_hgnc_id": 30649,
"gene_symbol": "CCDC80",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84197e-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": "Uncertain_significance",
"phylop100way_score": 3.962,
"pos": 112610076,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.356,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_199511.3"
}
]
}