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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: 13-33110035-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=33110035&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 33110035,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_178006.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2885C>G",
"hgvs_p": "p.Pro962Arg",
"transcript": "NM_178006.4",
"protein_id": "NP_821074.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "ENST00000336934.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2885C>G",
"hgvs_p": "p.Pro962Arg",
"transcript": "ENST00000336934.10",
"protein_id": "ENSP00000338785.4",
"transcript_support_level": 1,
"aa_start": 962,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "NM_178006.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2861C>G",
"hgvs_p": "p.Pro954Arg",
"transcript": "ENST00000255486.8",
"protein_id": "ENSP00000255486.4",
"transcript_support_level": 1,
"aa_start": 954,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 5798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2840C>G",
"hgvs_p": "p.Pro947Arg",
"transcript": "ENST00000567873.2",
"protein_id": "ENSP00000456233.2",
"transcript_support_level": 1,
"aa_start": 947,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3057,
"cdna_end": null,
"cdna_length": 5942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2531C>G",
"hgvs_p": "p.Pro844Arg",
"transcript": "ENST00000399365.7",
"protein_id": "ENSP00000382300.3",
"transcript_support_level": 1,
"aa_start": 844,
"aa_end": null,
"aa_length": 995,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 5784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2861C>G",
"hgvs_p": "p.Pro954Arg",
"transcript": "NM_178007.3",
"protein_id": "NP_821075.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2930,
"cdna_end": null,
"cdna_length": 5843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2840C>G",
"hgvs_p": "p.Pro947Arg",
"transcript": "NM_001411014.1",
"protein_id": "NP_001397943.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Pro927Arg",
"transcript": "NM_001243476.3",
"protein_id": "NP_001230405.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 3317,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2531C>G",
"hgvs_p": "p.Pro844Arg",
"transcript": "NM_052851.3",
"protein_id": "NP_443083.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 995,
"cds_start": 2531,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2922,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2915C>G",
"hgvs_p": "p.Pro972Arg",
"transcript": "XM_047430759.1",
"protein_id": "XP_047286715.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2915,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 4185,
"cdna_end": null,
"cdna_length": 7098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Pro927Arg",
"transcript": "XM_017020835.3",
"protein_id": "XP_016876324.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Pro927Arg",
"transcript": "XM_024449429.2",
"protein_id": "XP_024305197.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 14946,
"cdna_end": null,
"cdna_length": 17859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"hgvs_c": "c.2780C>G",
"hgvs_p": "p.Pro927Arg",
"transcript": "XM_047430760.1",
"protein_id": "XP_047286716.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2780,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 12589,
"cdna_end": null,
"cdna_length": 15502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"dbsnp": "rs748514950",
"frequency_reference_population": 0.000006569266,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656927,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8774675726890564,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9246,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.691,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_178006.4",
"gene_symbol": "STARD13",
"hgnc_id": 19164,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2885C>G",
"hgvs_p": "p.Pro962Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}