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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: 16-31087690-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31087690&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 31087690,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001039503.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Gln30Arg",
"transcript": "NM_001039503.3",
"protein_id": "NP_001034592.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 553,
"cds_start": 89,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": "ENST00000280606.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039503.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Gln30Arg",
"transcript": "ENST00000280606.7",
"protein_id": "ENSP00000280606.6",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 553,
"cds_start": 89,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": "NM_001039503.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280606.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255439",
"gene_hgnc_id": null,
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Gln105Arg",
"transcript": "ENST00000529564.1",
"protein_id": "ENSP00000431371.1",
"transcript_support_level": 4,
"aa_start": 105,
"aa_end": null,
"aa_length": 165,
"cds_start": 314,
"cds_end": null,
"cds_length": 498,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255439",
"gene_hgnc_id": null,
"hgvs_c": "n.*73A>G",
"hgvs_p": null,
"transcript": "ENST00000533518.5",
"protein_id": "ENSP00000433035.1",
"transcript_support_level": 1,
"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": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533518.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255439",
"gene_hgnc_id": null,
"hgvs_c": "n.*73A>G",
"hgvs_p": null,
"transcript": "ENST00000533518.5",
"protein_id": "ENSP00000433035.1",
"transcript_support_level": 1,
"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": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533518.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Gln30Arg",
"transcript": "XM_011545816.3",
"protein_id": "XP_011544118.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 623,
"cds_start": 89,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545816.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Gln30Arg",
"transcript": "XM_011545817.3",
"protein_id": "XP_011544119.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 614,
"cds_start": 89,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545817.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Gln30Arg",
"transcript": "XM_011545818.4",
"protein_id": "XP_011544120.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 600,
"cds_start": 89,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545818.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Gln30Arg",
"transcript": "XM_011545819.3",
"protein_id": "XP_011544121.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 576,
"cds_start": 89,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545819.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Gln30Arg",
"transcript": "XM_011545820.3",
"protein_id": "XP_011544122.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 567,
"cds_start": 89,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545820.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255439",
"gene_hgnc_id": null,
"hgvs_c": "c.174-792A>G",
"hgvs_p": null,
"transcript": "ENST00000532364.1",
"protein_id": "ENSP00000460316.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532364.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "n.1939A>G",
"hgvs_p": null,
"transcript": "ENST00000486499.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 5489,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486499.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"hgvs_c": "n.1039A>G",
"hgvs_p": null,
"transcript": "ENST00000492427.2",
"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": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492427.2"
}
],
"gene_symbol": "PRSS53",
"gene_hgnc_id": 34407,
"dbsnp": "rs11150606",
"frequency_reference_population": 0.050991125,
"hom_count_reference_population": 17080,
"allele_count_reference_population": 82234,
"gnomad_exomes_af": 0.050056,
"gnomad_genomes_af": 0.0599588,
"gnomad_exomes_ac": 73103,
"gnomad_genomes_ac": 9131,
"gnomad_exomes_homalt": 15194,
"gnomad_genomes_homalt": 1886,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000011534233408383443,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.0721,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.638,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "NM_001039503.3",
"gene_symbol": "PRSS53",
"hgnc_id": 34407,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.89A>G",
"hgvs_p": "p.Gln30Arg"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000529564.1",
"gene_symbol": "ENSG00000255439",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.314A>G",
"hgvs_p": "p.Gln105Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}