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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: 19-35633112-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35633112&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35633112,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024321.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "NM_024321.5",
"protein_id": "NP_077297.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 480,
"cds_start": 544,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": "ENST00000262633.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr",
"transcript": "ENST00000262633.9",
"protein_id": "ENSP00000262633.3",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 480,
"cds_start": 544,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": "NM_024321.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"hgvs_c": "c.454C>A",
"hgvs_p": "p.Pro152Thr",
"transcript": "ENST00000588161.5",
"protein_id": "ENSP00000466044.1",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 450,
"cds_start": 454,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Pro160Thr",
"transcript": "ENST00000589871.1",
"protein_id": "ENSP00000467278.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 458,
"cds_start": 478,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "NM_001319113.2",
"protein_id": "NP_001306042.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 451,
"cds_start": 457,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Pro128Thr",
"transcript": "ENST00000592202.5",
"protein_id": "ENSP00000467614.1",
"transcript_support_level": 5,
"aa_start": 128,
"aa_end": null,
"aa_length": 426,
"cds_start": 382,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000589559.5",
"protein_id": "ENSP00000468060.1",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 386,
"cds_start": 457,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"hgvs_c": "c.339+1916C>A",
"hgvs_p": null,
"transcript": "ENST00000586618.5",
"protein_id": "ENSP00000466548.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBM42",
"gene_hgnc_id": 28117,
"dbsnp": "rs763011011",
"frequency_reference_population": 6.855316e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85532e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5123305916786194,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": 0.1914,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.753,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024321.5",
"gene_symbol": "RBM42",
"hgnc_id": 28117,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Pro182Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}