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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: X-153444985-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153444985&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153444985,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_080701.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX2",
"gene_hgnc_id": 12270,
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"transcript": "NM_080701.4",
"protein_id": "NP_542432.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 236,
"cds_start": 446,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370231.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080701.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX2",
"gene_hgnc_id": 12270,
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"transcript": "ENST00000370231.3",
"protein_id": "ENSP00000359251.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 236,
"cds_start": 446,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080701.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370231.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "TREX2",
"gene_hgnc_id": 12270,
"hgvs_c": "c.575C>A",
"hgvs_p": "p.Pro192Gln",
"transcript": "ENST00000334497.7",
"protein_id": "ENSP00000334993.2",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 279,
"cds_start": 575,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334497.7"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "TREX2",
"gene_hgnc_id": 12270,
"hgvs_c": "c.575C>A",
"hgvs_p": "p.Pro192Gln",
"transcript": "ENST00000370232.4",
"protein_id": "ENSP00000359252.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 279,
"cds_start": 575,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370232.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX2",
"gene_hgnc_id": 12270,
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"transcript": "ENST00000330912.7",
"protein_id": "ENSP00000333441.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 236,
"cds_start": 446,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330912.7"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX2",
"gene_hgnc_id": 12270,
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"transcript": "ENST00000338525.7",
"protein_id": "ENSP00000345218.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 236,
"cds_start": 446,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338525.7"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TREX2",
"gene_hgnc_id": 12270,
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"transcript": "ENST00000393862.7",
"protein_id": "ENSP00000377442.2",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 236,
"cds_start": 446,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393862.7"
}
],
"gene_symbol": "TREX2",
"gene_hgnc_id": 12270,
"dbsnp": "rs781837494",
"frequency_reference_population": 0.000001878497,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000018785,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10233896970748901,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.1535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.25,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_080701.4",
"gene_symbol": "TREX2",
"hgnc_id": 12270,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}