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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: 10-110821298-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110821298&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 110821298,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000369519.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM20",
"gene_hgnc_id": 27424,
"hgvs_c": "c.2679T>C",
"hgvs_p": "p.Ser893Ser",
"transcript": "NM_001134363.3",
"protein_id": "NP_001127835.2",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 7293,
"mane_select": "ENST00000369519.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM20",
"gene_hgnc_id": 27424,
"hgvs_c": "c.2679T>C",
"hgvs_p": "p.Ser893Ser",
"transcript": "ENST00000369519.4",
"protein_id": "ENSP00000358532.3",
"transcript_support_level": 1,
"aa_start": 893,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 7293,
"mane_select": "NM_001134363.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM20",
"gene_hgnc_id": 27424,
"hgvs_c": "c.2679T>C",
"hgvs_p": "p.Ser893Ser",
"transcript": "ENST00000718239.1",
"protein_id": "ENSP00000520684.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 7296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM20",
"gene_hgnc_id": 27424,
"hgvs_c": "c.2514T>C",
"hgvs_p": "p.Ser838Ser",
"transcript": "XM_017016103.3",
"protein_id": "XP_016871592.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1172,
"cds_start": 2514,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 2684,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM20",
"gene_hgnc_id": 27424,
"hgvs_c": "c.2295T>C",
"hgvs_p": "p.Ser765Ser",
"transcript": "XM_017016104.3",
"protein_id": "XP_016871593.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2295,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 8032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM20",
"gene_hgnc_id": 27424,
"hgvs_c": "c.2295T>C",
"hgvs_p": "p.Ser765Ser",
"transcript": "XM_047425116.1",
"protein_id": "XP_047281072.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2295,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 11784,
"cdna_end": null,
"cdna_length": 16279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBM20",
"gene_hgnc_id": 27424,
"dbsnp": "rs1243335115",
"frequency_reference_population": 0.000017869192,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000178692,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.511,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000369519.4",
"gene_symbol": "RBM20",
"hgnc_id": 27424,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2679T>C",
"hgvs_p": "p.Ser893Ser"
}
],
"clinvar_disease": "Cardiovascular phenotype",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}