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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: 2-26183002-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26183002&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26183002,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001168241.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Arg97Gly",
"transcript": "NM_001168241.2",
"protein_id": "NP_001161713.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 874,
"cds_start": 289,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": "ENST00000401533.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Arg97Gly",
"transcript": "ENST00000401533.7",
"protein_id": "ENSP00000384593.1",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 874,
"cds_start": 289,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": "NM_001168241.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.58C>G",
"hgvs_p": "p.Arg20Gly",
"transcript": "NM_001191033.2",
"protein_id": "NP_001177962.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 664,
"cds_start": 58,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 5157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.58C>G",
"hgvs_p": "p.Arg20Gly",
"transcript": "ENST00000407684.1",
"protein_id": "ENSP00000384581.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 664,
"cds_start": 58,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Arg95Gly",
"transcript": "XM_011532564.3",
"protein_id": "XP_011530866.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 872,
"cds_start": 283,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Arg95Gly",
"transcript": "XM_011532565.4",
"protein_id": "XP_011530867.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 872,
"cds_start": 283,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Arg97Gly",
"transcript": "XM_006711951.5",
"protein_id": "XP_006712014.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 741,
"cds_start": 289,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Arg97Gly",
"transcript": "XM_011532567.4",
"protein_id": "XP_011530869.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 589,
"cds_start": 289,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 3888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.-69C>G",
"hgvs_p": null,
"transcript": "XM_011532566.3",
"protein_id": "XP_011530868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GAREM2",
"gene_hgnc_id": 27172,
"dbsnp": "rs199966839",
"frequency_reference_population": 0.0008430236,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1308,
"gnomad_exomes_af": 0.000853959,
"gnomad_genomes_af": 0.000742473,
"gnomad_exomes_ac": 1195,
"gnomad_genomes_ac": 113,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01436343789100647,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.6719,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.713,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001168241.2",
"gene_symbol": "GAREM2",
"hgnc_id": 27172,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.289C>G",
"hgvs_p": "p.Arg97Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}