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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: 2-112494189-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=112494189&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 112494189,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_153712.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"transcript": "NM_153712.5",
"protein_id": "NP_714923.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 377,
"cds_start": 283,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233336.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153712.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"transcript": "ENST00000233336.7",
"protein_id": "ENSP00000233336.5",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 377,
"cds_start": 283,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153712.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233336.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"transcript": "ENST00000961588.1",
"protein_id": "ENSP00000631647.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 376,
"cds_start": 283,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961588.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"transcript": "NM_001371712.1",
"protein_id": "NP_001358641.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 347,
"cds_start": 283,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371712.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"transcript": "ENST00000920102.1",
"protein_id": "ENSP00000590161.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 329,
"cds_start": 283,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920102.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"transcript": "ENST00000901134.1",
"protein_id": "ENSP00000571193.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 287,
"cds_start": 283,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901134.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"transcript": "XM_005263599.4",
"protein_id": "XP_005263656.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 367,
"cds_start": 283,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263599.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala",
"transcript": "XM_011510665.3",
"protein_id": "XP_011508967.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 329,
"cds_start": 283,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510665.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"hgvs_c": "c.237-128C>G",
"hgvs_p": null,
"transcript": "ENST00000961587.1",
"protein_id": "ENSP00000631646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": null,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961587.1"
}
],
"gene_symbol": "TTL",
"gene_hgnc_id": 21586,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9007348418235779,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.345,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9562,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.282,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153712.5",
"gene_symbol": "TTL",
"hgnc_id": 21586,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.283C>G",
"hgvs_p": "p.Pro95Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}