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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: 15-51404338-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=51404338&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 51404338,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000335449.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.1240C>A",
"hgvs_p": "p.Arg414Arg",
"transcript": "NM_181789.4",
"protein_id": "NP_861454.2",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 551,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": "ENST00000335449.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.1240C>A",
"hgvs_p": "p.Arg414Arg",
"transcript": "ENST00000335449.11",
"protein_id": "ENSP00000335196.6",
"transcript_support_level": 2,
"aa_start": 414,
"aa_end": null,
"aa_length": 551,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": "NM_181789.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "ENST00000396399.6",
"protein_id": "ENSP00000379681.2",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 427,
"cds_start": 868,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "NM_001330297.2",
"protein_id": "NP_001317226.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 427,
"cds_start": 868,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.1222C>A",
"hgvs_p": "p.Arg408Arg",
"transcript": "XM_017022121.2",
"protein_id": "XP_016877610.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 545,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.880C>A",
"hgvs_p": "p.Arg294Arg",
"transcript": "XM_011521501.3",
"protein_id": "XP_011519803.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 431,
"cds_start": 880,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 7535,
"cdna_end": null,
"cdna_length": 11197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "XM_017022122.3",
"protein_id": "XP_016877611.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 427,
"cds_start": 868,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "XM_017022124.3",
"protein_id": "XP_016877613.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 427,
"cds_start": 868,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "XM_047432431.1",
"protein_id": "XP_047288387.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 427,
"cds_start": 868,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.850C>A",
"hgvs_p": "p.Arg284Arg",
"transcript": "XM_047432432.1",
"protein_id": "XP_047288388.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 421,
"cds_start": 850,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.850C>A",
"hgvs_p": "p.Arg284Arg",
"transcript": "XM_047432433.1",
"protein_id": "XP_047288389.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 421,
"cds_start": 850,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 4613,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.1178+2595C>A",
"hgvs_p": null,
"transcript": "XM_017022125.1",
"protein_id": "XP_016877614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": -4,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1347,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"hgvs_c": "c.806+2595C>A",
"hgvs_p": null,
"transcript": "XM_017022126.3",
"protein_id": "XP_016877615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": -4,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLDN",
"gene_hgnc_id": 29514,
"dbsnp": "rs539703340",
"frequency_reference_population": 0.0000013697111,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136971,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.2199999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.704,
"phylop100way_prediction": "Uncertain_significance",
"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": 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": "ENST00000335449.11",
"gene_symbol": "GLDN",
"hgnc_id": 29514,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1240C>A",
"hgvs_p": "p.Arg414Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}