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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: 11-36574635-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=36574635&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 36574635,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000299440.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "NM_000448.3",
"protein_id": "NP_000439.2",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": "ENST00000299440.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "ENST00000299440.6",
"protein_id": "ENSP00000299440.5",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1461,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"hgvs_c": "n.1331C>T",
"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": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "NM_001377277.1",
"protein_id": "NP_001364206.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "NM_001377278.1",
"protein_id": "NP_001364207.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 6869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "NM_001377279.1",
"protein_id": "NP_001364208.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 6771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "NM_001377280.1",
"protein_id": "NP_001364209.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 6657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "NM_001440488.1",
"protein_id": "NP_001427417.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 6755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "NM_001440489.1",
"protein_id": "NP_001427418.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 7158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "ENST00000697713.1",
"protein_id": "ENSP00000513411.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "ENST00000697714.1",
"protein_id": "ENSP00000513412.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 6638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "ENST00000697715.1",
"protein_id": "ENSP00000513413.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 6881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1331C>T",
"hgvs_p": "p.Ala444Val",
"transcript": "XM_047427384.1",
"protein_id": "XP_047283340.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1043,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAG1",
"gene_hgnc_id": 9831,
"dbsnp": "rs199474685",
"frequency_reference_population": 0.000009293577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000088926,
"gnomad_genomes_af": 0.0000131468,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7373230457305908,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.6,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6099,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM3_Strong,PM1,PP4,PM2_Supporting,PS3_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM3_Strong",
"PM1",
"PP4",
"PM2_Supporting",
"PS3_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000299440.6",
"gene_symbol": "RAG1",
"hgnc_id": 9831,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ala444Val"
}
],
"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,Recombinase activating gene 1 deficiency,Severe combined immunodeficiency,Severe combined immunodeficiency disease,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:5 O:1",
"phenotype_combined": "not provided|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Severe combined immunodeficiency disease|Recombinase activating gene 1 deficiency|Combined immunodeficiency due to partial RAG1 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}