← 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: 6-116792598-A-AGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=116792598&ref=A&alt=AGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 116792598,
"ref": "A",
"alt": "AGG",
"effect": "frameshift_variant",
"transcript": "NM_148963.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC6A",
"gene_hgnc_id": 18510,
"hgvs_c": "c.2324_2325insCC",
"hgvs_p": "p.Glu776fs",
"transcript": "NM_148963.4",
"protein_id": "NP_683766.2",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 926,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310357.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148963.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC6A",
"gene_hgnc_id": 18510,
"hgvs_c": "c.2324_2325insCC",
"hgvs_p": "p.Glu776fs",
"transcript": "ENST00000310357.8",
"protein_id": "ENSP00000309493.4",
"transcript_support_level": 1,
"aa_start": 775,
"aa_end": null,
"aa_length": 926,
"cds_start": 2324,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_148963.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310357.8"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC6A",
"gene_hgnc_id": 18510,
"hgvs_c": "c.2111_2112insCC",
"hgvs_p": "p.Glu705fs",
"transcript": "ENST00000368549.7",
"protein_id": "ENSP00000357537.3",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 855,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368549.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC6A",
"gene_hgnc_id": 18510,
"hgvs_c": "c.1799_1800insCC",
"hgvs_p": "p.Glu601fs",
"transcript": "ENST00000530250.1",
"protein_id": "ENSP00000433465.1",
"transcript_support_level": 1,
"aa_start": 600,
"aa_end": null,
"aa_length": 751,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530250.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC6A",
"gene_hgnc_id": 18510,
"hgvs_c": "c.2111_2112insCC",
"hgvs_p": "p.Glu705fs",
"transcript": "NM_001286355.1",
"protein_id": "NP_001273284.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 855,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286355.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC6A",
"gene_hgnc_id": 18510,
"hgvs_c": "c.1799_1800insCC",
"hgvs_p": "p.Glu601fs",
"transcript": "NM_001286354.1",
"protein_id": "NP_001273283.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 751,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286354.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRC6A",
"gene_hgnc_id": 18510,
"hgvs_c": "c.2183_2184insCC",
"hgvs_p": "p.Glu729fs",
"transcript": "XM_017010475.2",
"protein_id": "XP_016865964.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 879,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010475.2"
}
],
"gene_symbol": "GPRC6A",
"gene_hgnc_id": 18510,
"dbsnp": "rs550458778",
"frequency_reference_population": 0.08921827,
"hom_count_reference_population": 10385,
"allele_count_reference_population": 143850,
"gnomad_exomes_af": 0.0813704,
"gnomad_genomes_af": 0.164548,
"gnomad_exomes_ac": 118818,
"gnomad_genomes_ac": 25032,
"gnomad_exomes_homalt": 7053,
"gnomad_genomes_homalt": 3332,
"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": 7.75,
"phylop100way_prediction": "Pathogenic",
"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": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_148963.4",
"gene_symbol": "GPRC6A",
"hgnc_id": 18510,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2324_2325insCC",
"hgvs_p": "p.Glu776fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}