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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: 11-77667403-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77667403&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77667403,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016578.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSF1",
"gene_hgnc_id": 18118,
"hgvs_c": "c.3840G>T",
"hgvs_p": "p.Glu1280Asp",
"transcript": "NM_016578.4",
"protein_id": "NP_057662.3",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3840,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 3848,
"cdna_end": null,
"cdna_length": 11242,
"mane_select": "ENST00000308488.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSF1",
"gene_hgnc_id": 18118,
"hgvs_c": "c.3840G>T",
"hgvs_p": "p.Glu1280Asp",
"transcript": "ENST00000308488.11",
"protein_id": "ENSP00000311513.6",
"transcript_support_level": 1,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3840,
"cds_end": null,
"cds_length": 4326,
"cdna_start": 3848,
"cdna_end": null,
"cdna_length": 11242,
"mane_select": "NM_016578.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSF1",
"gene_hgnc_id": 18118,
"hgvs_c": "c.3084G>T",
"hgvs_p": "p.Glu1028Asp",
"transcript": "ENST00000480887.5",
"protein_id": "ENSP00000434509.1",
"transcript_support_level": 1,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 4145,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSF1",
"gene_hgnc_id": 18118,
"hgvs_c": "c.3831G>T",
"hgvs_p": "p.Glu1277Asp",
"transcript": "XM_005274051.3",
"protein_id": "XP_005274108.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3831,
"cds_end": null,
"cds_length": 4317,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSF1",
"gene_hgnc_id": 18118,
"hgvs_c": "c.3717G>T",
"hgvs_p": "p.Glu1239Asp",
"transcript": "XM_017017923.2",
"protein_id": "XP_016873412.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3717,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 3734,
"cdna_end": null,
"cdna_length": 11128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RSF1",
"gene_hgnc_id": 18118,
"dbsnp": "rs11607608",
"frequency_reference_population": 6.841162e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84116e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03319811820983887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.23,
"revel_prediction": "Benign",
"alphamissense_score": 0.0602,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.878,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016578.4",
"gene_symbol": "RSF1",
"hgnc_id": 18118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3840G>T",
"hgvs_p": "p.Glu1280Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}