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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: 15-42692090-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42692090&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42692090,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000290607.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10512A>G",
"hgvs_p": "p.Thr3504Thr",
"transcript": "NM_020759.3",
"protein_id": "NP_065810.2",
"transcript_support_level": null,
"aa_start": 3504,
"aa_end": null,
"aa_length": 4700,
"cds_start": 10512,
"cds_end": null,
"cds_length": 14103,
"cdna_start": 10622,
"cdna_end": null,
"cdna_length": 15637,
"mane_select": "ENST00000290607.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10512A>G",
"hgvs_p": "p.Thr3504Thr",
"transcript": "ENST00000290607.12",
"protein_id": "ENSP00000290607.7",
"transcript_support_level": 5,
"aa_start": 3504,
"aa_end": null,
"aa_length": 4700,
"cds_start": 10512,
"cds_end": null,
"cds_length": 14103,
"cdna_start": 10622,
"cdna_end": null,
"cdna_length": 15637,
"mane_select": "NM_020759.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "n.2496A>G",
"hgvs_p": null,
"transcript": "ENST00000562619.1",
"protein_id": "ENSP00000454648.1",
"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": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10512A>G",
"hgvs_p": "p.Thr3504Thr",
"transcript": "XM_011521831.4",
"protein_id": "XP_011520133.1",
"transcript_support_level": null,
"aa_start": 3504,
"aa_end": null,
"aa_length": 4705,
"cds_start": 10512,
"cds_end": null,
"cds_length": 14118,
"cdna_start": 10622,
"cdna_end": null,
"cdna_length": 15652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10509A>G",
"hgvs_p": "p.Thr3503Thr",
"transcript": "XM_011521832.3",
"protein_id": "XP_011520134.1",
"transcript_support_level": null,
"aa_start": 3503,
"aa_end": null,
"aa_length": 4704,
"cds_start": 10509,
"cds_end": null,
"cds_length": 14115,
"cdna_start": 10619,
"cdna_end": null,
"cdna_length": 15649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10479A>G",
"hgvs_p": "p.Thr3493Thr",
"transcript": "XM_011521833.3",
"protein_id": "XP_011520135.1",
"transcript_support_level": null,
"aa_start": 3493,
"aa_end": null,
"aa_length": 4694,
"cds_start": 10479,
"cds_end": null,
"cds_length": 14085,
"cdna_start": 10589,
"cdna_end": null,
"cdna_length": 15619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10449A>G",
"hgvs_p": "p.Thr3483Thr",
"transcript": "XM_011521834.4",
"protein_id": "XP_011520136.1",
"transcript_support_level": null,
"aa_start": 3483,
"aa_end": null,
"aa_length": 4684,
"cds_start": 10449,
"cds_end": null,
"cds_length": 14055,
"cdna_start": 10559,
"cdna_end": null,
"cdna_length": 15589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10434A>G",
"hgvs_p": "p.Thr3478Thr",
"transcript": "XM_017022439.3",
"protein_id": "XP_016877928.1",
"transcript_support_level": null,
"aa_start": 3478,
"aa_end": null,
"aa_length": 4679,
"cds_start": 10434,
"cds_end": null,
"cds_length": 14040,
"cdna_start": 10544,
"cdna_end": null,
"cdna_length": 15574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10401A>G",
"hgvs_p": "p.Thr3467Thr",
"transcript": "XM_047432901.1",
"protein_id": "XP_047288857.1",
"transcript_support_level": null,
"aa_start": 3467,
"aa_end": null,
"aa_length": 4668,
"cds_start": 10401,
"cds_end": null,
"cds_length": 14007,
"cdna_start": 10511,
"cdna_end": null,
"cdna_length": 15541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10371A>G",
"hgvs_p": "p.Thr3457Thr",
"transcript": "XM_011521835.4",
"protein_id": "XP_011520137.1",
"transcript_support_level": null,
"aa_start": 3457,
"aa_end": null,
"aa_length": 4658,
"cds_start": 10371,
"cds_end": null,
"cds_length": 13977,
"cdna_start": 10481,
"cdna_end": null,
"cdna_length": 15511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10350A>G",
"hgvs_p": "p.Thr3450Thr",
"transcript": "XM_011521836.3",
"protein_id": "XP_011520138.1",
"transcript_support_level": null,
"aa_start": 3450,
"aa_end": null,
"aa_length": 4651,
"cds_start": 10350,
"cds_end": null,
"cds_length": 13956,
"cdna_start": 10887,
"cdna_end": null,
"cdna_length": 15917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10350A>G",
"hgvs_p": "p.Thr3450Thr",
"transcript": "XM_017022440.2",
"protein_id": "XP_016877929.1",
"transcript_support_level": null,
"aa_start": 3450,
"aa_end": null,
"aa_length": 4651,
"cds_start": 10350,
"cds_end": null,
"cds_length": 13956,
"cdna_start": 10552,
"cdna_end": null,
"cdna_length": 15582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10338A>G",
"hgvs_p": "p.Thr3446Thr",
"transcript": "XM_047432902.1",
"protein_id": "XP_047288858.1",
"transcript_support_level": null,
"aa_start": 3446,
"aa_end": null,
"aa_length": 4647,
"cds_start": 10338,
"cds_end": null,
"cds_length": 13944,
"cdna_start": 10448,
"cdna_end": null,
"cdna_length": 15478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10293A>G",
"hgvs_p": "p.Thr3431Thr",
"transcript": "XM_017022441.3",
"protein_id": "XP_016877930.1",
"transcript_support_level": null,
"aa_start": 3431,
"aa_end": null,
"aa_length": 4632,
"cds_start": 10293,
"cds_end": null,
"cds_length": 13899,
"cdna_start": 18497,
"cdna_end": null,
"cdna_length": 23527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10260A>G",
"hgvs_p": "p.Thr3420Thr",
"transcript": "XM_011521837.4",
"protein_id": "XP_011520139.1",
"transcript_support_level": null,
"aa_start": 3420,
"aa_end": null,
"aa_length": 4621,
"cds_start": 10260,
"cds_end": null,
"cds_length": 13866,
"cdna_start": 10435,
"cdna_end": null,
"cdna_length": 15465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.9798A>G",
"hgvs_p": "p.Thr3266Thr",
"transcript": "XM_017022442.1",
"protein_id": "XP_016877931.1",
"transcript_support_level": null,
"aa_start": 3266,
"aa_end": null,
"aa_length": 4467,
"cds_start": 9798,
"cds_end": null,
"cds_length": 13404,
"cdna_start": 9908,
"cdna_end": null,
"cdna_length": 14938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.9798A>G",
"hgvs_p": "p.Thr3266Thr",
"transcript": "XM_017022443.1",
"protein_id": "XP_016877932.1",
"transcript_support_level": null,
"aa_start": 3266,
"aa_end": null,
"aa_length": 4467,
"cds_start": 9798,
"cds_end": null,
"cds_length": 13404,
"cdna_start": 9892,
"cdna_end": null,
"cdna_length": 14922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"hgvs_c": "c.10512A>G",
"hgvs_p": "p.Thr3504Thr",
"transcript": "XM_047432903.1",
"protein_id": "XP_047288859.1",
"transcript_support_level": null,
"aa_start": 3504,
"aa_end": null,
"aa_length": 4258,
"cds_start": 10512,
"cds_end": null,
"cds_length": 12777,
"cdna_start": 10622,
"cdna_end": null,
"cdna_length": 12966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STARD9",
"gene_hgnc_id": 19162,
"dbsnp": "rs16957063",
"frequency_reference_population": 0.020878954,
"hom_count_reference_population": 1352,
"allele_count_reference_population": 32094,
"gnomad_exomes_af": 0.0168213,
"gnomad_genomes_af": 0.0577911,
"gnomad_exomes_ac": 23296,
"gnomad_genomes_ac": 8798,
"gnomad_exomes_homalt": 768,
"gnomad_genomes_homalt": 584,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.249,
"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,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000290607.12",
"gene_symbol": "STARD9",
"hgnc_id": 19162,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.10512A>G",
"hgvs_p": "p.Thr3504Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}