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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: 6-31622969-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31622969&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31622969,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000376033.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRRC2A",
"gene_hgnc_id": 13918,
"hgvs_c": "c.112+68C>T",
"hgvs_p": null,
"transcript": "NM_004638.4",
"protein_id": "NP_004629.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2157,
"cds_start": -4,
"cds_end": null,
"cds_length": 6474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6903,
"mane_select": "ENST00000376033.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRRC2A",
"gene_hgnc_id": 13918,
"hgvs_c": "c.112+68C>T",
"hgvs_p": null,
"transcript": "ENST00000376033.3",
"protein_id": "ENSP00000365201.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2157,
"cds_start": -4,
"cds_end": null,
"cds_length": 6474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6903,
"mane_select": "NM_004638.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRRC2A",
"gene_hgnc_id": 13918,
"hgvs_c": "c.112+68C>T",
"hgvs_p": null,
"transcript": "ENST00000376007.8",
"protein_id": "ENSP00000365175.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2157,
"cds_start": -4,
"cds_end": null,
"cds_length": 6474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRRC2A",
"gene_hgnc_id": 13918,
"hgvs_c": "c.112+68C>T",
"hgvs_p": null,
"transcript": "NM_080686.3",
"protein_id": "NP_542417.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2157,
"cds_start": -4,
"cds_end": null,
"cds_length": 6474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRRC2A",
"gene_hgnc_id": 13918,
"hgvs_c": "n.136-1292C>T",
"hgvs_p": null,
"transcript": "ENST00000469577.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRRC2A",
"gene_hgnc_id": 13918,
"hgvs_c": "c.112+68C>T",
"hgvs_p": null,
"transcript": "XM_047419336.1",
"protein_id": "XP_047275292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2086,
"cds_start": -4,
"cds_end": null,
"cds_length": 6261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291302",
"gene_hgnc_id": null,
"hgvs_c": "c.*109C>T",
"hgvs_p": null,
"transcript": "ENST00000706625.1",
"protein_id": "ENSP00000516471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": -4,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 87,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA38",
"gene_hgnc_id": 32631,
"hgvs_c": "n.-110C>T",
"hgvs_p": null,
"transcript": "ENST00000363946.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA38",
"gene_hgnc_id": 32631,
"hgvs_c": "n.-110C>T",
"hgvs_p": null,
"transcript": "NR_002971.1",
"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": 132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRRC2A",
"gene_hgnc_id": 13918,
"dbsnp": "rs3993757",
"frequency_reference_population": 0.024498776,
"hom_count_reference_population": 1045,
"allele_count_reference_population": 31795,
"gnomad_exomes_af": 0.0246897,
"gnomad_genomes_af": 0.023062,
"gnomad_exomes_ac": 28284,
"gnomad_genomes_ac": 3511,
"gnomad_exomes_homalt": 885,
"gnomad_genomes_homalt": 160,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.601,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000376033.3",
"gene_symbol": "PRRC2A",
"hgnc_id": 13918,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.112+68C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000706625.1",
"gene_symbol": "ENSG00000291302",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*109C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_002971.1",
"gene_symbol": "SNORA38",
"hgnc_id": 32631,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-110C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}