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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: 16-28914488-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28914488&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28914488,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_024816.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Ser214Ser",
"transcript": "NM_024816.3",
"protein_id": "NP_079092.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 569,
"cds_start": 642,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": "ENST00000358201.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Ser214Ser",
"transcript": "ENST00000358201.9",
"protein_id": "ENSP00000350934.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 569,
"cds_start": 642,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": "NM_024816.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Ser214Ser",
"transcript": "ENST00000357573.10",
"protein_id": "ENSP00000350186.6",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 533,
"cds_start": 642,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "n.1163C>T",
"hgvs_p": null,
"transcript": "ENST00000562590.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.429C>T",
"hgvs_p": "p.Ser143Ser",
"transcript": "ENST00000544477.5",
"protein_id": "ENSP00000442798.1",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 498,
"cds_start": 429,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.612C>T",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000567483.5",
"protein_id": "ENSP00000457040.1",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 279,
"cds_start": 612,
"cds_end": null,
"cds_length": 841,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.483C>T",
"hgvs_p": "p.Ser161Ser",
"transcript": "ENST00000568703.5",
"protein_id": "ENSP00000454968.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 244,
"cds_start": 483,
"cds_end": null,
"cds_length": 735,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.*2C>T",
"hgvs_p": null,
"transcript": "ENST00000561501.5",
"protein_id": "ENSP00000457495.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"hgvs_c": "c.*86C>T",
"hgvs_p": null,
"transcript": "ENST00000566762.1",
"protein_id": "ENSP00000454974.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
"cds_end": null,
"cds_length": 133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RABEP2",
"gene_hgnc_id": 24817,
"dbsnp": "rs750274682",
"frequency_reference_population": 0.000013638657,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000116369,
"gnomad_genomes_af": 0.0000328528,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.883,
"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": -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": "NM_024816.3",
"gene_symbol": "RABEP2",
"hgnc_id": 24817,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.642C>T",
"hgvs_p": "p.Ser214Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}