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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: 19-54813180-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54813180&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54813180,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001080772.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.762T>C",
"hgvs_p": "p.Phe254Phe",
"transcript": "ENST00000359085.8",
"protein_id": "ENSP00000351988.4",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 273,
"cds_start": 762,
"cds_end": null,
"cds_length": 822,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359085.8"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.707-510T>C",
"hgvs_p": null,
"transcript": "NM_001080770.2",
"protein_id": "NP_001074239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": "ENST00000345540.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080770.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.707-510T>C",
"hgvs_p": null,
"transcript": "ENST00000345540.10",
"protein_id": "ENSP00000339634.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1477,
"mane_select": "NM_001080770.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345540.10"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.656-510T>C",
"hgvs_p": null,
"transcript": "ENST00000357494.8",
"protein_id": "ENSP00000350088.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357494.8"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.422-510T>C",
"hgvs_p": null,
"transcript": "ENST00000346587.8",
"protein_id": "ENSP00000345331.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346587.8"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.371-510T>C",
"hgvs_p": null,
"transcript": "ENST00000396293.5",
"protein_id": "ENSP00000379588.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "n.723T>C",
"hgvs_p": null,
"transcript": "ENST00000463062.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463062.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "n.667-662T>C",
"hgvs_p": null,
"transcript": "ENST00000486965.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486965.6"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.756T>C",
"hgvs_p": "p.Phe252Phe",
"transcript": "ENST00000396289.5",
"protein_id": "ENSP00000379584.5",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 397,
"cds_start": 756,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396289.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.711T>C",
"hgvs_p": "p.Phe237Phe",
"transcript": "ENST00000861932.1",
"protein_id": "ENSP00000531991.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 382,
"cds_start": 711,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861932.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"hgvs_c": "c.762T>C",
"hgvs_p": "p.Phe254Phe",
"transcript": "NM_001080772.2",
"protein_id": "NP_001074241.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 273,
"cds_start": 762,
"cds_end": null,
"cds_length": 822,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080772.2"
}
],
"gene_symbol": "KIR2DL4",
"gene_hgnc_id": 6332,
"dbsnp": "rs649216",
"frequency_reference_population": 0.51736784,
"hom_count_reference_population": 208821,
"allele_count_reference_population": 704804,
"gnomad_exomes_af": 0.517295,
"gnomad_genomes_af": 0.518138,
"gnomad_exomes_ac": 643528,
"gnomad_genomes_ac": 61276,
"gnomad_exomes_homalt": 191737,
"gnomad_genomes_homalt": 17084,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.38999998569488525,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.616,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.39,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001080772.2",
"gene_symbol": "KIR2DL4",
"hgnc_id": 6332,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.762T>C",
"hgvs_p": "p.Phe254Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}