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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: 16-11454934-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11454934&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11454934,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000696174.1",
"consequences": [
{
"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": 67,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "LOC400499",
"gene_hgnc_id": 0,
"hgvs_c": "c.4045+1925C>A",
"hgvs_p": null,
"transcript": "NM_001370704.1",
"protein_id": "NP_001357633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3320,
"cds_start": -4,
"cds_end": null,
"cds_length": 9963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10754,
"mane_select": "ENST00000696174.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ENSG00000188897",
"gene_hgnc_id": 0,
"hgvs_c": "c.4045+1925C>A",
"hgvs_p": null,
"transcript": "ENST00000696174.1",
"protein_id": "ENSP00000512464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3320,
"cds_start": -4,
"cds_end": null,
"cds_length": 9963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10754,
"mane_select": "NM_001370704.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 66,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "LOC400499",
"gene_hgnc_id": null,
"hgvs_c": "c.4045+1925C>A",
"hgvs_p": null,
"transcript": "NM_001395505.1",
"protein_id": "NP_001382434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3266,
"cds_start": -4,
"cds_end": null,
"cds_length": 9801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 66,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "ENSG00000188897",
"gene_hgnc_id": null,
"hgvs_c": "c.4045+1925C>A",
"hgvs_p": null,
"transcript": "ENST00000598234.6",
"protein_id": "ENSP00000470478.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3266,
"cds_start": -4,
"cds_end": null,
"cds_length": 9801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ENSG00000188897",
"gene_hgnc_id": null,
"hgvs_c": "n.*2113+1925C>A",
"hgvs_p": null,
"transcript": "ENST00000595170.1",
"protein_id": "ENSP00000471908.1",
"transcript_support_level": 2,
"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": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000188897",
"gene_hgnc_id": null,
"hgvs_c": "n.281+1925C>A",
"hgvs_p": null,
"transcript": "ENST00000600877.1",
"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": 401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 67,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "LOC400499",
"gene_hgnc_id": null,
"hgvs_c": "c.4045+1925C>A",
"hgvs_p": null,
"transcript": "XM_047434105.1",
"protein_id": "XP_047290061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3349,
"cds_start": -4,
"cds_end": null,
"cds_length": 10050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC400499",
"gene_hgnc_id": null,
"hgvs_c": "c.829+1925C>A",
"hgvs_p": null,
"transcript": "XM_017023946.1",
"protein_id": "XP_016879435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2282,
"cds_start": -4,
"cds_end": null,
"cds_length": 6849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENSG00000188897",
"gene_hgnc_id": 0,
"dbsnp": "rs7197119",
"frequency_reference_population": 0.3166829,
"hom_count_reference_population": 8098,
"allele_count_reference_population": 48132,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.316683,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 48132,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8098,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0399999618530273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.04,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000696174.1",
"gene_symbol": "ENSG00000188897",
"hgnc_id": 0,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4045+1925C>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001370704.1",
"gene_symbol": "LOC400499",
"hgnc_id": 0,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4045+1925C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}