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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: 12-14511577-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=14511577&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 14511577,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024829.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "c.979C>G",
"hgvs_p": "p.Arg327Gly",
"transcript": "NM_024829.6",
"protein_id": "NP_079105.4",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 553,
"cds_start": 979,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": "ENST00000240617.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024829.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "c.979C>G",
"hgvs_p": "p.Arg327Gly",
"transcript": "ENST00000240617.10",
"protein_id": "ENSP00000240617.5",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 553,
"cds_start": 979,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": "NM_024829.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240617.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "c.1138C>G",
"hgvs_p": "p.Arg380Gly",
"transcript": "ENST00000918098.1",
"protein_id": "ENSP00000588157.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 606,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918098.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "c.976C>G",
"hgvs_p": "p.Arg326Gly",
"transcript": "ENST00000945093.1",
"protein_id": "ENSP00000615152.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 552,
"cds_start": 976,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945093.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "c.895C>G",
"hgvs_p": "p.Arg299Gly",
"transcript": "ENST00000918097.1",
"protein_id": "ENSP00000588156.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 525,
"cds_start": 895,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918097.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "c.979C>G",
"hgvs_p": "p.Arg327Gly",
"transcript": "ENST00000945095.1",
"protein_id": "ENSP00000615154.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 491,
"cds_start": 979,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945095.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "c.781C>G",
"hgvs_p": "p.Arg261Gly",
"transcript": "ENST00000945094.1",
"protein_id": "ENSP00000615153.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 487,
"cds_start": 781,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "n.*636C>G",
"hgvs_p": null,
"transcript": "ENST00000541618.1",
"protein_id": "ENSP00000441278.1",
"transcript_support_level": 5,
"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": 857,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000541618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "n.602C>G",
"hgvs_p": null,
"transcript": "ENST00000541800.6",
"protein_id": null,
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000541800.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"hgvs_c": "n.*636C>G",
"hgvs_p": null,
"transcript": "ENST00000541618.1",
"protein_id": "ENSP00000441278.1",
"transcript_support_level": 5,
"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": 857,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000541618.1"
}
],
"gene_symbol": "PLBD1",
"gene_hgnc_id": 26215,
"dbsnp": "rs764137177",
"frequency_reference_population": 6.840488e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84049e-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": 0.8669179677963257,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9598,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.297,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024829.6",
"gene_symbol": "PLBD1",
"hgnc_id": 26215,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.979C>G",
"hgvs_p": "p.Arg327Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}