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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: 13-33109945-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=33109945&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 33109945,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178006.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"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.2975G>A",
"hgvs_p": "p.Arg992Lys",
"transcript": "NM_178006.4",
"protein_id": "NP_821074.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2975,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "ENST00000336934.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2975G>A",
"hgvs_p": "p.Arg992Lys",
"transcript": "ENST00000336934.10",
"protein_id": "ENSP00000338785.4",
"transcript_support_level": 1,
"aa_start": 992,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2975,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "NM_178006.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2951G>A",
"hgvs_p": "p.Arg984Lys",
"transcript": "ENST00000255486.8",
"protein_id": "ENSP00000255486.4",
"transcript_support_level": 1,
"aa_start": 984,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 5798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2930G>A",
"hgvs_p": "p.Arg977Lys",
"transcript": "ENST00000567873.2",
"protein_id": "ENSP00000456233.2",
"transcript_support_level": 1,
"aa_start": 977,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2930,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 5942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2621G>A",
"hgvs_p": "p.Arg874Lys",
"transcript": "ENST00000399365.7",
"protein_id": "ENSP00000382300.3",
"transcript_support_level": 1,
"aa_start": 874,
"aa_end": null,
"aa_length": 995,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 5784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2951G>A",
"hgvs_p": "p.Arg984Lys",
"transcript": "NM_178007.3",
"protein_id": "NP_821075.1",
"transcript_support_level": null,
"aa_start": 984,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2951,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 5843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2930G>A",
"hgvs_p": "p.Arg977Lys",
"transcript": "NM_001411014.1",
"protein_id": "NP_001397943.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2930,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2870G>A",
"hgvs_p": "p.Arg957Lys",
"transcript": "NM_001243476.3",
"protein_id": "NP_001230405.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2870,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 3407,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2621G>A",
"hgvs_p": "p.Arg874Lys",
"transcript": "NM_052851.3",
"protein_id": "NP_443083.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 995,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 3012,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.3005G>A",
"hgvs_p": "p.Arg1002Lys",
"transcript": "XM_047430759.1",
"protein_id": "XP_047286715.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 4275,
"cdna_end": null,
"cdna_length": 7098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2870G>A",
"hgvs_p": "p.Arg957Lys",
"transcript": "XM_017020835.3",
"protein_id": "XP_016876324.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2870,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2870G>A",
"hgvs_p": "p.Arg957Lys",
"transcript": "XM_024449429.2",
"protein_id": "XP_024305197.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2870,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 15036,
"cdna_end": null,
"cdna_length": 17859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"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.2870G>A",
"hgvs_p": "p.Arg957Lys",
"transcript": "XM_047430760.1",
"protein_id": "XP_047286716.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2870,
"cds_end": null,
"cds_length": 3237,
"cdna_start": 12679,
"cdna_end": null,
"cdna_length": 15502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STARD13",
"gene_hgnc_id": 19164,
"dbsnp": "rs528268102",
"frequency_reference_population": 0.0000043367927,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410426,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05211493372917175,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.0567,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.346,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_178006.4",
"gene_symbol": "STARD13",
"hgnc_id": 19164,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2975G>A",
"hgvs_p": "p.Arg992Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}