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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: 11-27367901-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=27367901&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 27367901,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018490.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941His",
"transcript": "NM_018490.5",
"protein_id": "NP_060960.2",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 951,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379214.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018490.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941His",
"transcript": "ENST00000379214.9",
"protein_id": "ENSP00000368516.4",
"transcript_support_level": 1,
"aa_start": 941,
"aa_end": null,
"aa_length": 951,
"cds_start": 2822,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018490.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379214.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2750G>A",
"hgvs_p": "p.Arg917His",
"transcript": "ENST00000389858.4",
"protein_id": "ENSP00000374508.4",
"transcript_support_level": 1,
"aa_start": 917,
"aa_end": null,
"aa_length": 927,
"cds_start": 2750,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389858.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2753G>A",
"hgvs_p": "p.Arg918His",
"transcript": "ENST00000937760.1",
"protein_id": "ENSP00000607819.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 928,
"cds_start": 2753,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937760.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2750G>A",
"hgvs_p": "p.Arg917His",
"transcript": "NM_001346432.2",
"protein_id": "NP_001333361.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 927,
"cds_start": 2750,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346432.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2750G>A",
"hgvs_p": "p.Arg917His",
"transcript": "ENST00000894861.1",
"protein_id": "ENSP00000564920.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 927,
"cds_start": 2750,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894861.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893His",
"transcript": "ENST00000894858.1",
"protein_id": "ENSP00000564917.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 903,
"cds_start": 2678,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894858.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2678G>A",
"hgvs_p": "p.Arg893His",
"transcript": "ENST00000894859.1",
"protein_id": "ENSP00000564918.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 903,
"cds_start": 2678,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894859.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2606G>A",
"hgvs_p": "p.Arg869His",
"transcript": "ENST00000894860.1",
"protein_id": "ENSP00000564919.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 879,
"cds_start": 2606,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894860.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2306G>A",
"hgvs_p": "p.Arg769His",
"transcript": "ENST00000894862.1",
"protein_id": "ENSP00000564921.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 779,
"cds_start": 2306,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894862.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"hgvs_c": "c.2006G>A",
"hgvs_p": "p.Arg669His",
"transcript": "ENST00000937759.1",
"protein_id": "ENSP00000607818.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 679,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937759.1"
}
],
"gene_symbol": "LGR4",
"gene_hgnc_id": 13299,
"dbsnp": "rs202048946",
"frequency_reference_population": 0.000039944178,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000399972,
"gnomad_genomes_af": 0.0000394389,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1714731752872467,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.1206,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.421,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018490.5",
"gene_symbol": "LGR4",
"hgnc_id": 13299,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2822G>A",
"hgvs_p": "p.Arg941His"
}
],
"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
}