← 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: 8-47776977-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=47776977&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 47776977,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000314191.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.12049G>C",
"hgvs_p": "p.Glu4017Gln",
"transcript": "NM_006904.7",
"protein_id": "NP_008835.5",
"transcript_support_level": null,
"aa_start": 4017,
"aa_end": null,
"aa_length": 4128,
"cds_start": 12049,
"cds_end": null,
"cds_length": 12387,
"cdna_start": 12059,
"cdna_end": null,
"cdna_length": 13459,
"mane_select": "ENST00000314191.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 85,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.12049G>C",
"hgvs_p": "p.Glu4017Gln",
"transcript": "ENST00000314191.7",
"protein_id": "ENSP00000313420.3",
"transcript_support_level": 1,
"aa_start": 4017,
"aa_end": null,
"aa_length": 4128,
"cds_start": 12049,
"cds_end": null,
"cds_length": 12387,
"cdna_start": 12059,
"cdna_end": null,
"cdna_length": 13459,
"mane_select": "NM_006904.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.11956G>C",
"hgvs_p": "p.Glu3986Gln",
"transcript": "ENST00000338368.7",
"protein_id": "ENSP00000345182.4",
"transcript_support_level": 1,
"aa_start": 3986,
"aa_end": null,
"aa_length": 4097,
"cds_start": 11956,
"cds_end": null,
"cds_length": 12294,
"cdna_start": 12008,
"cdna_end": null,
"cdna_length": 12784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.11956G>C",
"hgvs_p": "p.Glu3986Gln",
"transcript": "NM_001081640.2",
"protein_id": "NP_001075109.1",
"transcript_support_level": null,
"aa_start": 3986,
"aa_end": null,
"aa_length": 4097,
"cds_start": 11956,
"cds_end": null,
"cds_length": 12294,
"cdna_start": 11966,
"cdna_end": null,
"cdna_length": 13366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.4726G>C",
"hgvs_p": "p.Glu1576Gln",
"transcript": "ENST00000697603.1",
"protein_id": "ENSP00000513358.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1687,
"cds_start": 4726,
"cds_end": null,
"cds_length": 5064,
"cdna_start": 4907,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.457G>C",
"hgvs_p": null,
"transcript": "ENST00000536483.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.1320G>C",
"hgvs_p": null,
"transcript": "ENST00000697601.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.2622G>C",
"hgvs_p": null,
"transcript": "ENST00000697602.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.2059G>C",
"hgvs_p": null,
"transcript": "ENST00000697604.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "n.2018G>C",
"hgvs_p": null,
"transcript": "ENST00000697605.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"hgvs_c": "c.267+709G>C",
"hgvs_p": null,
"transcript": "ENST00000536429.1",
"protein_id": "ENSP00000442177.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": -4,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKDC",
"gene_hgnc_id": 9413,
"dbsnp": "rs375321876",
"frequency_reference_population": 0.000009324091,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000892386,
"gnomad_genomes_af": 0.0000131607,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2996222972869873,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.396,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.482,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BP6_Moderate",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000314191.7",
"gene_symbol": "PRKDC",
"hgnc_id": 9413,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12049G>C",
"hgvs_p": "p.Glu4017Gln"
}
],
"clinvar_disease": "Severe combined immunodeficiency due to DNA-PKcs deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Severe combined immunodeficiency due to DNA-PKcs deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}