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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: 4-164877355-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=164877355&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 164877355,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001297550.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe",
"transcript": "NM_001297550.2",
"protein_id": "NP_001284479.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 54,
"cds_start": 24,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000507152.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297550.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe",
"transcript": "ENST00000507152.6",
"protein_id": "ENSP00000484618.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 54,
"cds_start": 24,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001297550.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507152.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe",
"transcript": "ENST00000515275.1",
"protein_id": "ENSP00000480045.1",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 54,
"cds_start": 24,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515275.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe",
"transcript": "ENST00000914507.1",
"protein_id": "ENSP00000584566.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 54,
"cds_start": 24,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914507.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe",
"transcript": "ENST00000914508.1",
"protein_id": "ENSP00000584567.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 54,
"cds_start": 24,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914508.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe",
"transcript": "ENST00000914509.1",
"protein_id": "ENSP00000584568.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 54,
"cds_start": 24,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914509.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe",
"transcript": "ENST00000914510.1",
"protein_id": "ENSP00000584569.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 54,
"cds_start": 24,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914510.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe",
"transcript": "XM_017007623.2",
"protein_id": "XP_016863112.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 54,
"cds_start": 24,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007623.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"hgvs_c": "n.24T>C",
"hgvs_p": null,
"transcript": "ENST00000510062.5",
"protein_id": "ENSP00000478306.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510062.5"
}
],
"gene_symbol": "APELA",
"gene_hgnc_id": 48925,
"dbsnp": "rs150754288",
"frequency_reference_population": 0.0022126997,
"hom_count_reference_population": 5,
"allele_count_reference_population": 883,
"gnomad_exomes_af": 0.000834995,
"gnomad_genomes_af": 0.00444366,
"gnomad_exomes_ac": 206,
"gnomad_genomes_ac": 677,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.336,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001297550.2",
"gene_symbol": "APELA",
"hgnc_id": 48925,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.24T>C",
"hgvs_p": "p.Phe8Phe"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}