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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: 1-15518223-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15518223&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15518223,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000333868.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "NM_001229.5",
"protein_id": "NP_001220.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 416,
"cds_start": 305,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": "ENST00000333868.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000333868.10",
"protein_id": "ENSP00000330237.5",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 416,
"cds_start": 305,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": "NM_001229.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000348549.9",
"protein_id": "ENSP00000255256.7",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 266,
"cds_start": 305,
"cds_end": null,
"cds_length": 801,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1621,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "n.296C>T",
"hgvs_p": null,
"transcript": "ENST00000400777.7",
"protein_id": "ENSP00000383588.3",
"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": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "n.278+27C>T",
"hgvs_p": null,
"transcript": "ENST00000474305.2",
"protein_id": "ENSP00000449216.1",
"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": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000546424.5",
"protein_id": "ENSP00000449584.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 421,
"cds_start": 305,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Thr19Ile",
"transcript": "NM_032996.3",
"protein_id": "NP_127463.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 333,
"cds_start": 56,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Thr19Ile",
"transcript": "ENST00000375890.8",
"protein_id": "ENSP00000365051.4",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 333,
"cds_start": 56,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "NM_001278054.2",
"protein_id": "NP_001264983.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 266,
"cds_start": 305,
"cds_end": null,
"cds_length": 801,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Thr19Ile",
"transcript": "ENST00000447522.5",
"protein_id": "ENSP00000396540.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 265,
"cds_start": 56,
"cds_end": null,
"cds_length": 799,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "ENST00000440484.1",
"protein_id": "ENSP00000411304.1",
"transcript_support_level": 4,
"aa_start": 102,
"aa_end": null,
"aa_length": 253,
"cds_start": 305,
"cds_end": null,
"cds_length": 764,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Thr19Ile",
"transcript": "ENST00000469637.1",
"protein_id": "ENSP00000480785.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 46,
"cds_start": 56,
"cds_end": null,
"cds_length": 143,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile",
"transcript": "XM_011542273.4",
"protein_id": "XP_011540575.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 421,
"cds_start": 305,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Thr19Ile",
"transcript": "XM_005246014.3",
"protein_id": "XP_005246071.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 333,
"cds_start": 56,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2722,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "n.320C>T",
"hgvs_p": null,
"transcript": "ENST00000546969.1",
"protein_id": null,
"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": 569,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "n.320C>T",
"hgvs_p": null,
"transcript": "NR_102732.2",
"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": 2866,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "n.320C>T",
"hgvs_p": null,
"transcript": "XR_007064158.1",
"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": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "c.-108C>T",
"hgvs_p": null,
"transcript": "XM_047432034.1",
"protein_id": "XP_047287990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"hgvs_c": "n.293+27C>T",
"hgvs_p": null,
"transcript": "NR_102733.2",
"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": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASP9",
"gene_hgnc_id": 1511,
"dbsnp": "rs2308941",
"frequency_reference_population": 0.014744365,
"hom_count_reference_population": 219,
"allele_count_reference_population": 23800,
"gnomad_exomes_af": 0.0152227,
"gnomad_genomes_af": 0.0101521,
"gnomad_exomes_ac": 22254,
"gnomad_genomes_ac": 1546,
"gnomad_exomes_homalt": 205,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0034403204917907715,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.433,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000333868.10",
"gene_symbol": "CASP9",
"hgnc_id": 1511,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Ile"
}
],
"clinvar_disease": "CASP9-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CASP9-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}