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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: 11-124649754-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124649754&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 124649754,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_170601.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.587G>T",
"hgvs_p": "p.Cys196Phe",
"transcript": "NM_170601.5",
"protein_id": "NP_733746.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 523,
"cds_start": 587,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": "ENST00000263593.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170601.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.587G>T",
"hgvs_p": "p.Cys196Phe",
"transcript": "ENST00000263593.8",
"protein_id": "ENSP00000263593.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 523,
"cds_start": 587,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 5441,
"mane_select": "NM_170601.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263593.8"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.482G>T",
"hgvs_p": "p.Cys161Phe",
"transcript": "ENST00000618733.4",
"protein_id": "ENSP00000478211.1",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 488,
"cds_start": 482,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618733.4"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.578G>T",
"hgvs_p": "p.Cys193Phe",
"transcript": "ENST00000899891.1",
"protein_id": "ENSP00000569950.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 520,
"cds_start": 578,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899891.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.587G>T",
"hgvs_p": "p.Cys196Phe",
"transcript": "ENST00000947745.1",
"protein_id": "ENSP00000617804.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 502,
"cds_start": 587,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947745.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.482G>T",
"hgvs_p": "p.Cys161Phe",
"transcript": "NM_001199922.2",
"protein_id": "NP_001186851.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 488,
"cds_start": 482,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199922.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.482G>T",
"hgvs_p": "p.Cys161Phe",
"transcript": "ENST00000545756.5",
"protein_id": "ENSP00000437877.1",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 488,
"cds_start": 482,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545756.5"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.14G>T",
"hgvs_p": "p.Cys5Phe",
"transcript": "XM_047427132.1",
"protein_id": "XP_047283088.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 332,
"cds_start": 14,
"cds_end": null,
"cds_length": 999,
"cdna_start": 2717,
"cdna_end": null,
"cdna_length": 7540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427132.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"hgvs_c": "c.406-9887G>T",
"hgvs_p": null,
"transcript": "ENST00000899892.1",
"protein_id": "ENSP00000569951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899892.1"
}
],
"gene_symbol": "SIAE",
"gene_hgnc_id": 18187,
"dbsnp": "rs143070599",
"frequency_reference_population": 0.0007526911,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1215,
"gnomad_exomes_af": 0.000768877,
"gnomad_genomes_af": 0.000597364,
"gnomad_exomes_ac": 1124,
"gnomad_genomes_ac": 91,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9018452167510986,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.938,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.855,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_170601.5",
"gene_symbol": "SIAE",
"hgnc_id": 18187,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.587G>T",
"hgvs_p": "p.Cys196Phe"
}
],
"clinvar_disease": " 6, susceptibility to,Autoimmune disease,SIAE-related disorder,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Autoimmune disease, susceptibility to, 6|not provided|SIAE-related disorder|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}