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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: 11-124654731-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124654731&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SIAE",
"hgnc_id": 18187,
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Ser156Ser",
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_170601.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 89002,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "SIAE-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 523,
"aa_ref": "S",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5441,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1572,
"cds_start": 468,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_170601.5",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Ser156Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263593.8",
"protein_coding": true,
"protein_id": "NP_733746.1",
"strand": false,
"transcript": "NM_170601.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 523,
"aa_ref": "S",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5441,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1572,
"cds_start": 468,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000263593.8",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Ser156Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_170601.5",
"protein_coding": true,
"protein_id": "ENSP00000263593.3",
"strand": false,
"transcript": "ENST00000263593.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 488,
"aa_ref": "S",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1467,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000618733.4",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.363T>C",
"hgvs_p": "p.Ser121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478211.1",
"strand": false,
"transcript": "ENST00000618733.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 520,
"aa_ref": "S",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1563,
"cds_start": 468,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899891.1",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Ser156Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569950.1",
"strand": false,
"transcript": "ENST00000899891.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 502,
"aa_ref": "S",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1509,
"cds_start": 468,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000947745.1",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Ser156Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617804.1",
"strand": false,
"transcript": "ENST00000947745.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 488,
"aa_ref": "S",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5714,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1467,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199922.2",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.363T>C",
"hgvs_p": "p.Ser121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186851.1",
"strand": false,
"transcript": "NM_001199922.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 488,
"aa_ref": "S",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1467,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000545756.5",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.363T>C",
"hgvs_p": "p.Ser121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437877.1",
"strand": false,
"transcript": "ENST00000545756.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 274,
"aa_ref": "S",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 499,
"cds_end": null,
"cds_length": 825,
"cds_start": 468,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047427133.1",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Ser156Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283089.1",
"strand": false,
"transcript": "XM_047427133.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 336,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1372,
"cdna_start": null,
"cds_end": null,
"cds_length": 1011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899892.1",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.405+5897T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569951.1",
"strand": false,
"transcript": "ENST00000899892.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 568,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533613.1",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "n.492T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000533613.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 332,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7540,
"cdna_start": null,
"cds_end": null,
"cds_length": 999,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427132.1",
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"hgvs_c": "c.-2946T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283088.1",
"strand": true,
"transcript": "XM_047427132.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1942663",
"effect": "synonymous_variant",
"frequency_reference_population": 0.05514675,
"gene_hgnc_id": 18187,
"gene_symbol": "SIAE",
"gnomad_exomes_ac": 62370,
"gnomad_exomes_af": 0.0426646,
"gnomad_exomes_homalt": 6671,
"gnomad_genomes_ac": 26632,
"gnomad_genomes_af": 0.175158,
"gnomad_genomes_homalt": 6287,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 12958,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided|SIAE-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.2,
"pos": 124654731,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_170601.5"
}
]
}