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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: 19-11483833-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11483833&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11483833,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138783.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.1697G>C",
"hgvs_p": "p.Arg566Pro",
"transcript": "NM_138783.4",
"protein_id": "NP_620138.2",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 615,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": "ENST00000293771.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.1697G>C",
"hgvs_p": "p.Arg566Pro",
"transcript": "ENST00000293771.10",
"protein_id": "ENSP00000293771.3",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 615,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": "NM_138783.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267477",
"gene_hgnc_id": null,
"hgvs_c": "n.469+12117G>C",
"hgvs_p": null,
"transcript": "ENST00000585656.1",
"protein_id": "ENSP00000466387.1",
"transcript_support_level": 5,
"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": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.187G>C",
"hgvs_p": "p.Gly63Arg",
"transcript": "ENST00000589051.1",
"protein_id": "ENSP00000465955.1",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 71,
"cds_start": 187,
"cds_end": null,
"cds_length": 216,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.267G>C",
"hgvs_p": "p.Pro89Pro",
"transcript": "ENST00000590296.5",
"protein_id": "ENSP00000465166.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 216,
"cds_start": 267,
"cds_end": null,
"cds_length": 651,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "n.1865G>C",
"hgvs_p": null,
"transcript": "ENST00000590548.5",
"protein_id": null,
"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": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.*205G>C",
"hgvs_p": null,
"transcript": "ENST00000592756.1",
"protein_id": "ENSP00000467069.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"dbsnp": "rs1379374014",
"frequency_reference_population": 0.0000035161052,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000351611,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8651167154312134,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9923,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.856,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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_138783.4",
"gene_symbol": "ZNF653",
"hgnc_id": 25196,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1697G>C",
"hgvs_p": "p.Arg566Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000585656.1",
"gene_symbol": "ENSG00000267477",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.469+12117G>C",
"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
}