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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: 16-4576452-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4576452&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4576452,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001145011.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf96",
"gene_hgnc_id": 40031,
"hgvs_c": "c.1972G>C",
"hgvs_p": "p.Gly658Arg",
"transcript": "NM_001145011.2",
"protein_id": "NP_001138483.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1972,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "ENST00000444310.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145011.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf96",
"gene_hgnc_id": 40031,
"hgvs_c": "c.1972G>C",
"hgvs_p": "p.Gly658Arg",
"transcript": "ENST00000444310.5",
"protein_id": "ENSP00000415027.3",
"transcript_support_level": 5,
"aa_start": 658,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1972,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "NM_001145011.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444310.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf96",
"gene_hgnc_id": 40031,
"hgvs_c": "c.1972G>C",
"hgvs_p": "p.Gly658Arg",
"transcript": "NM_001387219.1",
"protein_id": "NP_001374148.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1972,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387219.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf96",
"gene_hgnc_id": 40031,
"hgvs_c": "c.1912G>C",
"hgvs_p": "p.Gly638Arg",
"transcript": "XM_005255298.4",
"protein_id": "XP_005255355.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 1121,
"cds_start": 1912,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255298.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf96",
"gene_hgnc_id": 40031,
"hgvs_c": "c.1972G>C",
"hgvs_p": "p.Gly658Arg",
"transcript": "XM_005255301.4",
"protein_id": "XP_005255358.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1972,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255301.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C16orf96",
"gene_hgnc_id": 40031,
"hgvs_c": "c.1549G>C",
"hgvs_p": "p.Gly517Arg",
"transcript": "XM_047434053.1",
"protein_id": "XP_047290009.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1549,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434053.1"
}
],
"gene_symbol": "C16orf96",
"gene_hgnc_id": 40031,
"dbsnp": "rs754694263",
"frequency_reference_population": 0.0000012892862,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.1478e-7,
"gnomad_genomes_af": 0.0000065697,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05525392293930054,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.1859,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.754,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001145011.2",
"gene_symbol": "C16orf96",
"hgnc_id": 40031,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1972G>C",
"hgvs_p": "p.Gly658Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}