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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: 11-36593951-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=36593951&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 36593951,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000311485.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_000536.4",
"protein_id": "NP_000527.2",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": "ENST00000311485.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000311485.8",
"protein_id": "ENSP00000308620.4",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": "NM_000536.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_001243785.2",
"protein_id": "NP_001230714.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "NM_001243786.2",
"protein_id": "NP_001230715.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000527033.6",
"protein_id": "ENSP00000436895.2",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000529083.2",
"protein_id": "ENSP00000436327.2",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "ENST00000532616.2",
"protein_id": "ENSP00000432174.2",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "XM_047427385.1",
"protein_id": "XP_047283341.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His",
"transcript": "XM_047427386.1",
"protein_id": "XP_047283342.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 527,
"cds_start": 218,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 3675,
"cdna_end": null,
"cdna_length": 5683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAG2",
"gene_hgnc_id": 9832,
"hgvs_c": "n.131+4151G>A",
"hgvs_p": null,
"transcript": "ENST00000524423.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAG2",
"gene_hgnc_id": 9832,
"dbsnp": "rs762407838",
"frequency_reference_population": 0.0000055763603,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.0000041043,
"gnomad_genomes_af": 0.0000197272,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8985815644264221,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.881,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.641,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.852,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000311485.8",
"gene_symbol": "RAG2",
"hgnc_id": 9832,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.218G>A",
"hgvs_p": "p.Arg73His"
}
],
"clinvar_disease": " B cell-negative, NK cell-positive, T cell-negative, autosomal recessive,Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency,Combined immunodeficiency with skin granulomas,Histiocytic medullary reticulosis,Immunodeficiency 104,Inborn error of immunity,Recombinase activating gene 2 deficiency,Severe combined immunodeficiency",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:3 US:2",
"phenotype_combined": "Immunodeficiency 104|Histiocytic medullary reticulosis;Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency;Recombinase activating gene 2 deficiency;Inborn error of immunity|Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas|Histiocytic medullary reticulosis|Histiocytic medullary reticulosis;Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}