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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: 15-41564269-A-ACACTGCCTGCAGCCCCCTTCAACATCACC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41564269&ref=A&alt=ACACTGCCTGCAGCCCCCTTCAACATCACC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 41564269,
"ref": "A",
"alt": "ACACTGCCTGCAGCCCCCTTCAACATCACC",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_006293.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "NM_006293.4",
"protein_id": "NP_006284.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 890,
"cds_start": 667,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": "ENST00000263798.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006293.4"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000263798.8",
"protein_id": "ENSP00000263798.3",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 890,
"cds_start": 667,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": "NM_006293.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263798.8"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000869540.1",
"protein_id": "ENSP00000539599.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 921,
"cds_start": 667,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869540.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000869541.1",
"protein_id": "ENSP00000539600.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 909,
"cds_start": 667,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869541.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000941858.1",
"protein_id": "ENSP00000611917.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 907,
"cds_start": 667,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941858.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000938082.1",
"protein_id": "ENSP00000608141.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 889,
"cds_start": 667,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938082.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000869539.1",
"protein_id": "ENSP00000539598.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 885,
"cds_start": 667,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869539.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.633_634insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala212fs",
"transcript": "ENST00000938084.1",
"protein_id": "ENSP00000608143.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 879,
"cds_start": 634,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938084.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000869538.1",
"protein_id": "ENSP00000539597.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 876,
"cds_start": 667,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869538.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000938083.1",
"protein_id": "ENSP00000608142.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 871,
"cds_start": 667,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938083.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000941859.1",
"protein_id": "ENSP00000611918.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 871,
"cds_start": 667,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941859.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.531_532insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala178fs",
"transcript": "NM_001330264.2",
"protein_id": "NP_001317193.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 845,
"cds_start": 532,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 8187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330264.2"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.531_532insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala178fs",
"transcript": "ENST00000559066.5",
"protein_id": "ENSP00000454050.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 845,
"cds_start": 532,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559066.5"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "ENST00000941857.1",
"protein_id": "ENSP00000611916.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 782,
"cds_start": 667,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941857.1"
},
{
"aa_ref": "A",
"aa_alt": "HCLQPPSTSP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs",
"transcript": "XM_017022543.3",
"protein_id": "XP_016878032.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 771,
"cds_start": 667,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022543.3"
},
{
"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": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"hgvs_c": "c.581-757_581-756insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": null,
"transcript": "ENST00000941856.1",
"protein_id": "ENSP00000611915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 861,
"cds_start": null,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941856.1"
}
],
"gene_symbol": "TYRO3",
"gene_hgnc_id": 12446,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.339,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_006293.4",
"gene_symbol": "TYRO3",
"hgnc_id": 12446,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC",
"hgvs_p": "p.Ala223fs"
}
],
"clinvar_disease": "46,XX disorder of sex development",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "46,XX disorder of sex development",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}