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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: 13-45713332-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=45713332&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CBY2",
"hgnc_id": 30720,
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Met103Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_152719.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.097,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.26755815744400024,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 448,
"aa_ref": "M",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 378,
"cds_end": null,
"cds_length": 1347,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_152719.3",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Met103Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310521.6",
"protein_coding": true,
"protein_id": "NP_689932.1",
"strand": true,
"transcript": "NM_152719.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 448,
"aa_ref": "M",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 378,
"cds_end": null,
"cds_length": 1347,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000310521.6",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Met103Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152719.3",
"protein_coding": true,
"protein_id": "ENSP00000309189.1",
"strand": true,
"transcript": "ENST00000310521.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 412,
"aa_ref": "M",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1239,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378966.3",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368249.3",
"strand": true,
"transcript": "ENST00000378966.3",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 421,
"aa_ref": "M",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 297,
"cds_end": null,
"cds_length": 1266,
"cds_start": 226,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001286341.2",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.226A>G",
"hgvs_p": "p.Met76Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273270.1",
"strand": true,
"transcript": "NM_001286341.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 412,
"aa_ref": "M",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1239,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001286342.2",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273271.1",
"strand": true,
"transcript": "NM_001286342.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 412,
"aa_ref": "M",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1239,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000610924.1",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Met67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480148.1",
"strand": true,
"transcript": "ENST00000610924.1",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 159,
"aa_ref": "M",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": 297,
"cds_end": null,
"cds_length": 480,
"cds_start": 226,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533564.1",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.226A>G",
"hgvs_p": "p.Met76Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435230.1",
"strand": true,
"transcript": "ENST00000533564.1",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 475,
"aa_ref": "M",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 459,
"cds_end": null,
"cds_length": 1428,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011534971.3",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533273.1",
"strand": true,
"transcript": "XM_011534971.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 365,
"aa_ref": "M",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1482,
"cdna_start": 255,
"cds_end": null,
"cds_length": 1098,
"cds_start": 58,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047430135.1",
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"hgvs_c": "c.58A>G",
"hgvs_p": "p.Met20Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286091.1",
"strand": true,
"transcript": "XM_047430135.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1336850537",
"effect": "missense_variant",
"frequency_reference_population": 0.000004788486,
"gene_hgnc_id": 30720,
"gene_symbol": "CBY2",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000478849,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.5,
"pos": 45713332,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.163,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07000000029802322,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.07,
"transcript": "NM_152719.3"
}
]
}