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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: 13-33224125-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=33224125&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 33224125,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000336934.10",
"consequences": [
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.170-56503T>G",
"hgvs_p": null,
"transcript": "NM_178006.4",
"protein_id": "NP_821074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": -4,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "ENST00000336934.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.170-56503T>G",
"hgvs_p": null,
"transcript": "ENST00000336934.10",
"protein_id": "ENSP00000338785.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": -4,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "NM_178006.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.125-56503T>G",
"hgvs_p": null,
"transcript": "ENST00000567873.2",
"protein_id": "ENSP00000456233.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": -4,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5942,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "n.287-56503T>G",
"hgvs_p": null,
"transcript": "ENST00000487412.5",
"protein_id": null,
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.125-56503T>G",
"hgvs_p": null,
"transcript": "NM_001411014.1",
"protein_id": "NP_001397943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": -4,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.65-56503T>G",
"hgvs_p": null,
"transcript": "NM_001243476.3",
"protein_id": "NP_001230405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": -4,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6230,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "n.239-56503T>G",
"hgvs_p": null,
"transcript": "ENST00000498019.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 568,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STARD13-AS",
"gene_hgnc_id": 40873,
"hgvs_c": "n.226+35868A>C",
"hgvs_p": null,
"transcript": "ENST00000628131.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.200-56503T>G",
"hgvs_p": null,
"transcript": "XM_047430759.1",
"protein_id": "XP_047286715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.65-56503T>G",
"hgvs_p": null,
"transcript": "XM_017020835.3",
"protein_id": "XP_016876324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": -4,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.65-56503T>G",
"hgvs_p": null,
"transcript": "XM_024449429.2",
"protein_id": "XP_024305197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": -4,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.65-56503T>G",
"hgvs_p": null,
"transcript": "XM_047430760.1",
"protein_id": "XP_047286716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1078,
"cds_start": -4,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"dbsnp": "rs2555603",
"frequency_reference_population": 0.21090238,
"hom_count_reference_population": 3719,
"allele_count_reference_population": 32085,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.210902,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 32085,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3719,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.206,
"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": -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": "ENST00000336934.10",
"gene_symbol": "STARD13",
"hgnc_id": 19164,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.170-56503T>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000628131.2",
"gene_symbol": "STARD13-AS",
"hgnc_id": 40873,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.226+35868A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}