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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: 19-55857838-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55857838&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55857838,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_134444.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP4",
"gene_hgnc_id": 22943,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "NM_134444.5",
"protein_id": "NP_604393.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 994,
"cds_start": 445,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301295.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134444.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP4",
"gene_hgnc_id": 22943,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000301295.11",
"protein_id": "ENSP00000301295.4",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 994,
"cds_start": 445,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_134444.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301295.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP4",
"gene_hgnc_id": 22943,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"transcript": "ENST00000587891.5",
"protein_id": "ENSP00000465463.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 919,
"cds_start": 220,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587891.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP4",
"gene_hgnc_id": 22943,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "ENST00000587464.1",
"protein_id": "ENSP00000468496.1",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 154,
"cds_start": 445,
"cds_end": null,
"cds_length": 467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587464.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP4",
"gene_hgnc_id": 22943,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "XM_017026344.1",
"protein_id": "XP_016881833.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 938,
"cds_start": 445,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026344.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP4",
"gene_hgnc_id": 22943,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "XM_017026345.1",
"protein_id": "XP_016881834.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 937,
"cds_start": 445,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026345.1"
}
],
"gene_symbol": "NLRP4",
"gene_hgnc_id": 22943,
"dbsnp": "rs773617976",
"frequency_reference_population": 0.000019210058,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000198412,
"gnomad_genomes_af": 0.0000131467,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34351497888565063,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.227,
"revel_prediction": "Benign",
"alphamissense_score": 0.1258,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.323,
"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": 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_134444.5",
"gene_symbol": "NLRP4",
"hgnc_id": 22943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys"
}
],
"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
}