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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: 20-35115804-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35115804&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35115804,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000374492.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Ala456Thr",
"transcript": "NM_018217.3",
"protein_id": "NP_060687.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 578,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": "ENST00000374492.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Ala456Thr",
"transcript": "ENST00000374492.8",
"protein_id": "ENSP00000363616.3",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 578,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": "NM_018217.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"transcript": "ENST00000374491.3",
"protein_id": "ENSP00000363615.2",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 541,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "c.1255G>A",
"hgvs_p": "p.Ala419Thr",
"transcript": "NM_001145025.2",
"protein_id": "NP_001138497.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 541,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMP24-AS1-EDEM2",
"gene_hgnc_id": null,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr",
"transcript": "NM_001355008.2",
"protein_id": "NP_001341937.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 537,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"hgvs_c": "n.1660G>A",
"hgvs_p": null,
"transcript": "NR_026728.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EDEM2",
"gene_hgnc_id": 15877,
"dbsnp": "rs3746429",
"frequency_reference_population": 0.16055661,
"hom_count_reference_population": 22198,
"allele_count_reference_population": 259078,
"gnomad_exomes_af": 0.164147,
"gnomad_genomes_af": 0.125975,
"gnomad_exomes_ac": 239956,
"gnomad_genomes_ac": 19122,
"gnomad_exomes_homalt": 20681,
"gnomad_genomes_homalt": 1517,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0026990771293640137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.009,
"revel_prediction": "Benign",
"alphamissense_score": 0.0589,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.56,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000374492.8",
"gene_symbol": "EDEM2",
"hgnc_id": 15877,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Ala456Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001355008.2",
"gene_symbol": "MMP24-AS1-EDEM2",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Ala415Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}