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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: 11-4138236-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=4138236&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 4138236,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000300738.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.2232G>T",
"hgvs_p": "p.Ala744Ala",
"transcript": "NM_001033.5",
"protein_id": "NP_001024.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 792,
"cds_start": 2232,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": "ENST00000300738.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.2232G>T",
"hgvs_p": "p.Ala744Ala",
"transcript": "ENST00000300738.10",
"protein_id": "ENSP00000300738.5",
"transcript_support_level": 1,
"aa_start": 744,
"aa_end": null,
"aa_length": 792,
"cds_start": 2232,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": "NM_001033.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.1941G>T",
"hgvs_p": "p.Ala647Ala",
"transcript": "NM_001318064.1",
"protein_id": "NP_001304993.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 695,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.1566G>T",
"hgvs_p": "p.Ala522Ala",
"transcript": "NM_001330193.1",
"protein_id": "NP_001317122.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 570,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.1566G>T",
"hgvs_p": "p.Ala522Ala",
"transcript": "ENST00000534285.5",
"protein_id": "ENSP00000431464.1",
"transcript_support_level": 5,
"aa_start": 522,
"aa_end": null,
"aa_length": 570,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.1218G>T",
"hgvs_p": "p.Ala406Ala",
"transcript": "NM_001318065.1",
"protein_id": "NP_001304994.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 454,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1-AS1",
"gene_hgnc_id": 40512,
"hgvs_c": "n.22C>A",
"hgvs_p": null,
"transcript": "ENST00000529323.1",
"protein_id": null,
"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": 346,
"mane_select": null,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*2108G>T",
"hgvs_p": null,
"transcript": "ENST00000532170.5",
"protein_id": "ENSP00000435656.1",
"transcript_support_level": 2,
"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": 3166,
"mane_select": null,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*1940G>T",
"hgvs_p": null,
"transcript": "ENST00000533349.5",
"protein_id": "ENSP00000434069.1",
"transcript_support_level": 2,
"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": 2863,
"mane_select": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*1380G>T",
"hgvs_p": null,
"transcript": "ENST00000533495.5",
"protein_id": "ENSP00000436377.1",
"transcript_support_level": 2,
"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": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*2108G>T",
"hgvs_p": null,
"transcript": "ENST00000532170.5",
"protein_id": "ENSP00000435656.1",
"transcript_support_level": 2,
"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": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*1940G>T",
"hgvs_p": null,
"transcript": "ENST00000533349.5",
"protein_id": "ENSP00000434069.1",
"transcript_support_level": 2,
"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": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*1380G>T",
"hgvs_p": null,
"transcript": "ENST00000533495.5",
"protein_id": "ENSP00000436377.1",
"transcript_support_level": 2,
"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": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"dbsnp": "rs1042858",
"frequency_reference_population": 0.000013166384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000552901,
"gnomad_genomes_af": 0.0000131664,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.028,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000300738.10",
"gene_symbol": "RRM1",
"hgnc_id": 10451,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2232G>T",
"hgvs_p": "p.Ala744Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000529323.1",
"gene_symbol": "RRM1-AS1",
"hgnc_id": 40512,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.22C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}