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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: 15-29124713-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29124713&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 29124713,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015307.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "c.1277G>C",
"hgvs_p": "p.Gly426Ala",
"transcript": "NM_015307.2",
"protein_id": "NP_056122.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 539,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": "ENST00000261275.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "c.1277G>C",
"hgvs_p": "p.Gly426Ala",
"transcript": "ENST00000261275.5",
"protein_id": "ENSP00000261275.4",
"transcript_support_level": 5,
"aa_start": 426,
"aa_end": null,
"aa_length": 539,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": "NM_015307.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "n.1013G>C",
"hgvs_p": null,
"transcript": "ENST00000560021.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Gly381Ala",
"transcript": "NM_001387214.1",
"protein_id": "NP_001374143.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 494,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 4828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "c.989G>C",
"hgvs_p": "p.Gly330Ala",
"transcript": "NM_001387215.1",
"protein_id": "NP_001374144.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 449,
"cds_start": 989,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "c.989G>C",
"hgvs_p": "p.Gly330Ala",
"transcript": "NM_001387216.1",
"protein_id": "NP_001374145.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 443,
"cds_start": 989,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "c.854G>C",
"hgvs_p": "p.Gly285Ala",
"transcript": "NM_001387217.1",
"protein_id": "NP_001374146.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 404,
"cds_start": 854,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "c.1505G>C",
"hgvs_p": "p.Gly502Ala",
"transcript": "XM_011521407.3",
"protein_id": "XP_011519709.2",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 615,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"hgvs_c": "c.1277G>C",
"hgvs_p": "p.Gly426Ala",
"transcript": "XM_047432323.1",
"protein_id": "XP_047288279.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 545,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENTREP2",
"gene_hgnc_id": 29075,
"dbsnp": "rs1039139775",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09441229701042175,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.072,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.835,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015307.2",
"gene_symbol": "ENTREP2",
"hgnc_id": 29075,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1277G>C",
"hgvs_p": "p.Gly426Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}