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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: 17-80087748-CA-ACCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80087748&ref=CA&alt=ACCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 80087748,
"ref": "CA",
"alt": "ACCG",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_017950.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.2591_2592delCAinsACCG",
"hgvs_p": "p.Thr864fs",
"transcript": "NM_017950.4",
"protein_id": "NP_060420.2",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2591,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397545.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017950.4"
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.2591_2592delCAinsACCG",
"hgvs_p": "p.Thr864fs",
"transcript": "ENST00000397545.9",
"protein_id": "ENSP00000380679.4",
"transcript_support_level": 5,
"aa_start": 864,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2591,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017950.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397545.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "n.2128_2129delCAinsACCG",
"hgvs_p": null,
"transcript": "ENST00000574799.5",
"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": "ENST00000574799.5"
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.2591_2592delCAinsACCG",
"hgvs_p": "p.Thr864fs",
"transcript": "ENST00000897784.1",
"protein_id": "ENSP00000567843.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2591,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897784.1"
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.2591_2592delCAinsACCG",
"hgvs_p": "p.Thr864fs",
"transcript": "NM_001243342.2",
"protein_id": "NP_001230271.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2591,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243342.2"
},
{
"aa_ref": "T",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "c.2591_2592delCAinsACCG",
"hgvs_p": "p.Thr864fs",
"transcript": "ENST00000374877.7",
"protein_id": "ENSP00000364011.3",
"transcript_support_level": 5,
"aa_start": 864,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2591,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374877.7"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "n.2608_2609delCAinsACCG",
"hgvs_p": null,
"transcript": "ENST00000572253.5",
"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": "retained_intron",
"feature": "ENST00000572253.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "n.46_47delCAinsACCG",
"hgvs_p": null,
"transcript": "ENST00000574933.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000574933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"hgvs_c": "n.235_236delCAinsACCG",
"hgvs_p": null,
"transcript": "ENST00000575431.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000575431.1"
}
],
"gene_symbol": "CCDC40",
"gene_hgnc_id": 26090,
"dbsnp": "rs1060501719",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.058,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_017950.4",
"gene_symbol": "CCDC40",
"hgnc_id": 26090,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2591_2592delCAinsACCG",
"hgvs_p": "p.Thr864fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}