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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: 19-11484096-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11484096&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11484096,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138783.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539Lys",
"transcript": "NM_138783.4",
"protein_id": "NP_620138.2",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 615,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": "ENST00000293771.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539Lys",
"transcript": "ENST00000293771.10",
"protein_id": "ENSP00000293771.3",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 615,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1669,
"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+11854G>A",
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Lys",
"transcript": "ENST00000590296.5",
"protein_id": "ENSP00000465166.1",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 216,
"cds_start": 224,
"cds_end": null,
"cds_length": 651,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.449G>A",
"hgvs_p": "p.Arg150Lys",
"transcript": "ENST00000592756.1",
"protein_id": "ENSP00000467069.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 168,
"cds_start": 449,
"cds_end": null,
"cds_length": 507,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 534,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Gly36Arg",
"transcript": "ENST00000589051.1",
"protein_id": "ENSP00000465955.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 71,
"cds_start": 106,
"cds_end": null,
"cds_length": 216,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 581,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"hgvs_c": "n.1784G>A",
"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
}
],
"gene_symbol": "ZNF653",
"gene_hgnc_id": 25196,
"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": 0.29828351736068726,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.9782,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.676,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138783.4",
"gene_symbol": "ZNF653",
"hgnc_id": 25196,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539Lys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000585656.1",
"gene_symbol": "ENSG00000267477",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.469+11854G>A",
"hgvs_p": null
}
],
"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
}