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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-123886060-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=123886060&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 123886060,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000371199.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "NM_001167.4",
"protein_id": "NP_001158.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 497,
"cds_start": 398,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": "ENST00000371199.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "ENST00000371199.8",
"protein_id": "ENSP00000360242.3",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 497,
"cds_start": 398,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 8558,
"mane_select": "NM_001167.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "n.100-2559C>G",
"hgvs_p": null,
"transcript": "ENST00000497640.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "NM_001204401.2",
"protein_id": "NP_001191330.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 497,
"cds_start": 398,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 8409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "NM_001378590.1",
"protein_id": "NP_001365519.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 497,
"cds_start": 398,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 8413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "NM_001378591.1",
"protein_id": "NP_001365520.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 497,
"cds_start": 398,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 8536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "NM_001378592.1",
"protein_id": "NP_001365521.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 497,
"cds_start": 398,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 8348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "ENST00000355640.3",
"protein_id": "ENSP00000347858.3",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 497,
"cds_start": 398,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 8584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "ENST00000422098.6",
"protein_id": "ENSP00000405529.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 497,
"cds_start": 398,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys",
"transcript": "ENST00000430625.1",
"protein_id": "ENSP00000400637.1",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 155,
"cds_start": 398,
"cds_end": null,
"cds_length": 468,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "n.93-2559C>G",
"hgvs_p": null,
"transcript": "ENST00000468503.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "n.157-2559C>G",
"hgvs_p": null,
"transcript": "ENST00000468691.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "n.143-2559C>G",
"hgvs_p": null,
"transcript": "ENST00000481776.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "n.207-2559C>G",
"hgvs_p": null,
"transcript": "ENST00000497906.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "n.242-2559C>G",
"hgvs_p": null,
"transcript": "NR_037916.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"hgvs_c": "n.224-2559C>G",
"hgvs_p": null,
"transcript": "NR_165803.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "XIAP",
"gene_hgnc_id": 592,
"dbsnp": "rs28382722",
"frequency_reference_population": 9.108439e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.10844e-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": 0.29834243655204773,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.09,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.484,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371199.8",
"gene_symbol": "XIAP",
"hgnc_id": 592,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}