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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: 1-159066050-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159066050&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 159066050,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004833.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "NM_004833.3",
"protein_id": "NP_004824.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 343,
"cds_start": 676,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368130.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004833.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "ENST00000368130.9",
"protein_id": "ENSP00000357112.4",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 343,
"cds_start": 676,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004833.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368130.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "ENST00000411768.2",
"protein_id": "ENSP00000512039.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 343,
"cds_start": 676,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411768.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "ENST00000695580.1",
"protein_id": "ENSP00000512040.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 343,
"cds_start": 676,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695580.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "ENST00000913842.1",
"protein_id": "ENSP00000583901.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 343,
"cds_start": 676,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913842.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.361C>G",
"hgvs_p": "p.Arg121Gly",
"transcript": "NM_001348247.2",
"protein_id": "NP_001335176.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 238,
"cds_start": 361,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348247.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000695579.1",
"protein_id": "ENSP00000512038.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 206,
"cds_start": 265,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695579.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.265C>G",
"hgvs_p": "p.Arg89Gly",
"transcript": "ENST00000368129.3",
"protein_id": "ENSP00000357111.3",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 166,
"cds_start": 265,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368129.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "XM_047434808.1",
"protein_id": "XP_047290764.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 343,
"cds_start": 676,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434808.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "XM_047434809.1",
"protein_id": "XP_047290765.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 343,
"cds_start": 676,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434809.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly",
"transcript": "XM_047434811.1",
"protein_id": "XP_047290767.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 343,
"cds_start": 676,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434811.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "n.676C>G",
"hgvs_p": null,
"transcript": "ENST00000850621.1",
"protein_id": "ENSP00000520906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000850621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "n.830C>G",
"hgvs_p": null,
"transcript": "XR_001737544.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001737544.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "n.548C>G",
"hgvs_p": null,
"transcript": "XR_001737547.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001737547.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "n.1237C>G",
"hgvs_p": null,
"transcript": "XR_007064924.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"hgvs_c": "n.281-56C>G",
"hgvs_p": null,
"transcript": "ENST00000481829.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481829.5"
}
],
"gene_symbol": "AIM2",
"gene_hgnc_id": 357,
"dbsnp": "rs748193319",
"frequency_reference_population": 0.000003420347,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342035,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07368013262748718,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.1483,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.157,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004833.3",
"gene_symbol": "AIM2",
"hgnc_id": 357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.676C>G",
"hgvs_p": "p.Arg226Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}