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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: 15-75207427-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75207427&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75207427,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015492.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"transcript": "NM_015492.5",
"protein_id": "NP_056307.3",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394987.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015492.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"transcript": "ENST00000394987.5",
"protein_id": "ENSP00000378438.4",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015492.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394987.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"transcript": "ENST00000567617.1",
"protein_id": "ENSP00000458025.1",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 938,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567617.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"transcript": "ENST00000360639.6",
"protein_id": "ENSP00000353854.2",
"transcript_support_level": 2,
"aa_start": 460,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360639.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"transcript": "ENST00000899650.1",
"protein_id": "ENSP00000569709.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899650.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"transcript": "ENST00000899651.1",
"protein_id": "ENSP00000569710.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899651.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"transcript": "ENST00000899652.1",
"protein_id": "ENSP00000569711.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899652.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.983C>T",
"hgvs_p": "p.Pro328Leu",
"transcript": "ENST00000565074.1",
"protein_id": "ENSP00000454405.1",
"transcript_support_level": 6,
"aa_start": 328,
"aa_end": null,
"aa_length": 806,
"cds_start": 983,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565074.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"transcript": "XM_047432864.1",
"protein_id": "XP_047288820.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 1047,
"cds_start": 1379,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432864.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Pro182Leu",
"transcript": "XM_047432865.1",
"protein_id": "XP_047288821.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 769,
"cds_start": 545,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432865.1"
}
],
"gene_symbol": "C15orf39",
"gene_hgnc_id": 24497,
"dbsnp": "rs553765076",
"frequency_reference_population": 0.00005206151,
"hom_count_reference_population": 1,
"allele_count_reference_population": 84,
"gnomad_exomes_af": 0.0000533803,
"gnomad_genomes_af": 0.0000394052,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01146000623703003,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.596,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015492.5",
"gene_symbol": "C15orf39",
"hgnc_id": 24497,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu"
}
],
"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
}