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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: 7-83150474-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=83150474&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 83150474,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000333891.14",
"consequences": [
{
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "NM_033026.6",
"protein_id": "NP_149015.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5142,
"cds_start": -4,
"cds_end": null,
"cds_length": 15429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20284,
"mane_select": "ENST00000333891.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "ENST00000333891.14",
"protein_id": "ENSP00000334319.8",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 5142,
"cds_start": -4,
"cds_end": null,
"cds_length": 15429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20284,
"mane_select": "NM_033026.6",
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "NM_014510.3",
"protein_id": "NP_055325.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4935,
"cds_start": -4,
"cds_end": null,
"cds_length": 14808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17101,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "ENST00000423517.6",
"protein_id": "ENSP00000388393.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4935,
"cds_start": -4,
"cds_end": null,
"cds_length": 14808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17147,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "XM_047420210.1",
"protein_id": "XP_047276166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5203,
"cds_start": -4,
"cds_end": null,
"cds_length": 15612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20467,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "XM_047420211.1",
"protein_id": "XP_047276167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 5045,
"cds_start": -4,
"cds_end": null,
"cds_length": 15138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 19993,
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "XM_047420212.1",
"protein_id": "XP_047276168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4999,
"cds_start": -4,
"cds_end": null,
"cds_length": 15000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15874,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "XM_047420213.1",
"protein_id": "XP_047276169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4593,
"cds_start": -4,
"cds_end": null,
"cds_length": 13782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14203,
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"hgvs_c": "c.1893+4274T>C",
"hgvs_p": null,
"transcript": "XM_017012006.3",
"protein_id": "XP_016867495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2838,
"cds_start": -4,
"cds_end": null,
"cds_length": 8517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PCLO",
"gene_hgnc_id": 13406,
"dbsnp": "rs4644166",
"frequency_reference_population": 0.05870533,
"hom_count_reference_population": 579,
"allele_count_reference_population": 8940,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0587053,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 8940,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 579,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.38,
"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": "ENST00000333891.14",
"gene_symbol": "PCLO",
"hgnc_id": 13406,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1893+4274T>C",
"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
}