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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: 2-201209805-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201209805&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201209805,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_032977.4",
"consequences": [
{
"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": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1415+243A>G",
"hgvs_p": null,
"transcript": "NM_032977.4",
"protein_id": "NP_116759.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": "ENST00000286186.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1415+243A>G",
"hgvs_p": null,
"transcript": "ENST00000286186.11",
"protein_id": "ENSP00000286186.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": "NM_032977.4",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1286+243A>G",
"hgvs_p": null,
"transcript": "ENST00000448480.1",
"protein_id": "ENSP00000396835.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1603,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1214+243A>G",
"hgvs_p": null,
"transcript": "ENST00000313728.12",
"protein_id": "ENSP00000314599.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1645,
"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": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1415+243A>G",
"hgvs_p": null,
"transcript": "NM_032974.5",
"protein_id": "NP_116756.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2064,
"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": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1415+243A>G",
"hgvs_p": null,
"transcript": "ENST00000272879.9",
"protein_id": "ENSP00000272879.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2073,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1286+243A>G",
"hgvs_p": null,
"transcript": "NM_001230.5",
"protein_id": "NP_001221.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5539,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1286+243A>G",
"hgvs_p": null,
"transcript": "ENST00000346817.10",
"protein_id": "ENSP00000237865.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3585,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1286+243A>G",
"hgvs_p": null,
"transcript": "NM_001206542.2",
"protein_id": "NP_001193471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1935,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1214+243A>G",
"hgvs_p": null,
"transcript": "NM_001206524.2",
"protein_id": "NP_001193453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5467,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.*501+243A>G",
"hgvs_p": null,
"transcript": "NM_032976.4",
"protein_id": "NP_116758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5576,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.721+6039A>G",
"hgvs_p": null,
"transcript": "ENST00000696199.1",
"protein_id": "ENSP00000512481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.*501+243A>G",
"hgvs_p": null,
"transcript": "ENST00000492363.6",
"protein_id": "ENSP00000512459.1",
"transcript_support_level": 2,
"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": 1983,
"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": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.1412+243A>G",
"hgvs_p": null,
"transcript": "XM_005246907.3",
"protein_id": "XP_005246964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5665,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "c.665+243A>G",
"hgvs_p": null,
"transcript": "XM_047446016.1",
"protein_id": "XP_047301972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"hgvs_c": "n.*1115A>G",
"hgvs_p": null,
"transcript": "ENST00000438843.6",
"protein_id": "ENSP00000401914.1",
"transcript_support_level": 2,
"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": 1404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASP10",
"gene_hgnc_id": 1500,
"dbsnp": "rs7576306",
"frequency_reference_population": 0.3718165,
"hom_count_reference_population": 11909,
"allele_count_reference_population": 56441,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.371816,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 56441,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11909,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.611,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032977.4",
"gene_symbol": "CASP10",
"hgnc_id": 1500,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1415+243A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}