← Back to variant description
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: 11-36576278-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=36576278&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 36576278,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000299440.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "NM_000448.3",
"protein_id": "NP_000439.2",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3104,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": "ENST00000299440.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "ENST00000299440.6",
"protein_id": "ENSP00000299440.5",
"transcript_support_level": 1,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3104,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": "NM_000448.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "n.2789+185A>G",
"hgvs_p": null,
"transcript": "ENST00000534663.1",
"protein_id": "ENSP00000434610.1",
"transcript_support_level": 1,
"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": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "NM_001377277.1",
"protein_id": "NP_001364206.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "NM_001377278.1",
"protein_id": "NP_001364207.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3385,
"cdna_end": null,
"cdna_length": 6869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "NM_001377279.1",
"protein_id": "NP_001364208.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3287,
"cdna_end": null,
"cdna_length": 6771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "NM_001377280.1",
"protein_id": "NP_001364209.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3173,
"cdna_end": null,
"cdna_length": 6657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "NM_001440488.1",
"protein_id": "NP_001427417.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3271,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "NM_001440489.1",
"protein_id": "NP_001427418.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3674,
"cdna_end": null,
"cdna_length": 7158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "ENST00000697713.1",
"protein_id": "ENSP00000513411.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "ENST00000697714.1",
"protein_id": "ENSP00000513412.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 6638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "ENST00000697715.1",
"protein_id": "ENSP00000513413.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 3397,
"cdna_end": null,
"cdna_length": 6881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu",
"transcript": "XM_047427384.1",
"protein_id": "XP_047283340.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 4275,
"cdna_end": null,
"cdna_length": 7759,
"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.132-307T>C",
"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": "RAG1",
"gene_hgnc_id": 9831,
"dbsnp": "rs539590514",
"frequency_reference_population": 0.000026022433,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000198386,
"gnomad_genomes_af": 0.0000854162,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5222511887550354,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.595,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9777,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.867,
"phylop100way_prediction": "Pathogenic",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000299440.6",
"gene_symbol": "RAG1",
"hgnc_id": 9831,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2974A>G",
"hgvs_p": "p.Lys992Glu"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000524423.1",
"gene_symbol": "RAG2",
"hgnc_id": 9832,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.132-307T>C",
"hgvs_p": null
}
],
"clinvar_disease": " B cell-negative, NK cell-positive, T cell-negative, autosomal recessive,Combined immunodeficiency due to partial RAG1 deficiency,Combined immunodeficiency with skin granulomas,Histiocytic medullary reticulosis,RAG1-related disorder,Severe combined immunodeficiency,Severe combined immunodeficiency disease,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "not provided|Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency due to partial RAG1 deficiency|RAG1-related disorder|Severe combined immunodeficiency disease|Histiocytic medullary reticulosis;Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive;Combined immunodeficiency due to partial RAG1 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}