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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: 2-32224763-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32224763&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32224763,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000402280.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Ala929Ser",
"transcript": "NM_001199138.2",
"protein_id": "NP_001186067.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "ENST00000402280.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Ala929Ser",
"transcript": "ENST00000402280.6",
"protein_id": "ENSP00000385428.1",
"transcript_support_level": 1,
"aa_start": 929,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "NM_001199138.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Ala929Ser",
"transcript": "ENST00000360906.9",
"protein_id": "ENSP00000354159.5",
"transcript_support_level": 1,
"aa_start": 929,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000342905.10",
"protein_id": "ENSP00000339666.6",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 359,
"cds_start": 790,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Ala929Ser",
"transcript": "NM_001199139.1",
"protein_id": "NP_001186068.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Ala929Ser",
"transcript": "NM_021209.4",
"protein_id": "NP_067032.3",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3060,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "NM_001302504.1",
"protein_id": "NP_001289433.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 359,
"cds_start": 790,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.478G>T",
"hgvs_p": "p.Ala160Ser",
"transcript": "ENST00000652197.2",
"protein_id": "ENSP00000498301.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 255,
"cds_start": 478,
"cds_end": null,
"cds_length": 768,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "n.*491G>T",
"hgvs_p": null,
"transcript": "ENST00000404025.3",
"protein_id": "ENSP00000385090.3",
"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": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "n.*491G>T",
"hgvs_p": null,
"transcript": "ENST00000404025.3",
"protein_id": "ENSP00000385090.3",
"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": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"dbsnp": "rs61754192",
"frequency_reference_population": 0.010582809,
"hom_count_reference_population": 103,
"allele_count_reference_population": 16406,
"gnomad_exomes_af": 0.0108959,
"gnomad_genomes_af": 0.00768549,
"gnomad_exomes_ac": 15244,
"gnomad_genomes_ac": 1162,
"gnomad_exomes_homalt": 99,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0049054622650146484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.0875,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.453,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000402280.6",
"gene_symbol": "NLRC4",
"hgnc_id": 16412,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2785G>T",
"hgvs_p": "p.Ala929Ser"
}
],
"clinvar_disease": "Autoinflammatory syndrome,Familial cold autoinflammatory syndrome 4,NLRC4-related disorder,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Autoinflammatory syndrome|NLRC4-related disorder|not specified|not provided|Periodic fever-infantile enterocolitis-autoinflammatory syndrome;Familial cold autoinflammatory syndrome 4",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}