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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: 7-47833247-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=47833247&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 47833247,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000289672.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L1",
"gene_hgnc_id": 18053,
"hgvs_c": "c.6180T>A",
"hgvs_p": "p.Pro2060Pro",
"transcript": "NM_138295.5",
"protein_id": "NP_612152.1",
"transcript_support_level": null,
"aa_start": 2060,
"aa_end": null,
"aa_length": 2849,
"cds_start": 6180,
"cds_end": null,
"cds_length": 8550,
"cdna_start": 6206,
"cdna_end": null,
"cdna_length": 9105,
"mane_select": "ENST00000289672.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L1",
"gene_hgnc_id": 18053,
"hgvs_c": "c.6180T>A",
"hgvs_p": "p.Pro2060Pro",
"transcript": "ENST00000289672.7",
"protein_id": "ENSP00000289672.2",
"transcript_support_level": 1,
"aa_start": 2060,
"aa_end": null,
"aa_length": 2849,
"cds_start": 6180,
"cds_end": null,
"cds_length": 8550,
"cdna_start": 6206,
"cdna_end": null,
"cdna_length": 9105,
"mane_select": "NM_138295.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L1",
"gene_hgnc_id": 18053,
"hgvs_c": "c.6180T>A",
"hgvs_p": "p.Pro2060Pro",
"transcript": "ENST00000690269.1",
"protein_id": "ENSP00000510743.1",
"transcript_support_level": null,
"aa_start": 2060,
"aa_end": null,
"aa_length": 2861,
"cds_start": 6180,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 6206,
"cdna_end": null,
"cdna_length": 9141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L1",
"gene_hgnc_id": 18053,
"hgvs_c": "c.6012T>A",
"hgvs_p": "p.Pro2004Pro",
"transcript": "ENST00000685709.1",
"protein_id": "ENSP00000509540.1",
"transcript_support_level": null,
"aa_start": 2004,
"aa_end": null,
"aa_length": 2793,
"cds_start": 6012,
"cds_end": null,
"cds_length": 8382,
"cdna_start": 6038,
"cdna_end": null,
"cdna_length": 8937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKD1L1",
"gene_hgnc_id": 18053,
"hgvs_c": "c.6357T>A",
"hgvs_p": "p.Pro2119Pro",
"transcript": "XM_017011798.3",
"protein_id": "XP_016867287.1",
"transcript_support_level": null,
"aa_start": 2119,
"aa_end": null,
"aa_length": 2920,
"cds_start": 6357,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 14903,
"cdna_end": null,
"cdna_length": 17838,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PKD1L1",
"gene_hgnc_id": 18053,
"hgvs_c": "c.375+1092T>A",
"hgvs_p": null,
"transcript": "ENST00000686775.1",
"protein_id": "ENSP00000508550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": -4,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PKD1L1",
"gene_hgnc_id": 18053,
"dbsnp": "rs921634",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.922,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000289672.7",
"gene_symbol": "PKD1L1",
"hgnc_id": 18053,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6180T>A",
"hgvs_p": "p.Pro2060Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}