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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: 1-186297968-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=186297968&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 186297968,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000445192.7",
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "NM_005807.6",
"protein_id": "NP_005798.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1404,
"cds_start": -4,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": "ENST00000445192.7",
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "ENST00000445192.7",
"protein_id": "ENSP00000399679.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1404,
"cds_start": -4,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": "NM_005807.6",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "NM_001127708.3",
"protein_id": "NP_001121180.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1363,
"cds_start": -4,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4932,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "ENST00000367483.8",
"protein_id": "ENSP00000356453.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1363,
"cds_start": -4,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4921,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "NM_001303232.2",
"protein_id": "NP_001290161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1361,
"cds_start": -4,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4926,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "ENST00000635041.1",
"protein_id": "ENSP00000489292.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1361,
"cds_start": -4,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4915,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "NM_001127709.3",
"protein_id": "NP_001121181.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4776,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "ENST00000367485.4",
"protein_id": "ENSP00000356455.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4765,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "NM_001127710.3",
"protein_id": "NP_001121182.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1270,
"cds_start": -4,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4653,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "ENST00000367482.8",
"protein_id": "ENSP00000356452.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2606,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"hgvs_c": "c.76+1017C>A",
"hgvs_p": null,
"transcript": "ENST00000533951.5",
"protein_id": "ENSP00000431330.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRG4",
"gene_hgnc_id": 9364,
"dbsnp": "rs1293989",
"frequency_reference_population": 0.62036467,
"hom_count_reference_population": 30451,
"allele_count_reference_population": 94386,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.620365,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 94386,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 30451,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.577,
"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": "ENST00000445192.7",
"gene_symbol": "PRG4",
"hgnc_id": 9364,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.76+1017C>A",
"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
}