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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: 11-4119902-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=4119902&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 4119902,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000300738.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.850C>A",
"hgvs_p": "p.Arg284Arg",
"transcript": "NM_001033.5",
"protein_id": "NP_001024.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 792,
"cds_start": 850,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": "ENST00000300738.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.850C>A",
"hgvs_p": "p.Arg284Arg",
"transcript": "ENST00000300738.10",
"protein_id": "ENSP00000300738.5",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 792,
"cds_start": 850,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": "NM_001033.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.559C>A",
"hgvs_p": "p.Arg187Arg",
"transcript": "NM_001318064.1",
"protein_id": "NP_001304993.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 695,
"cds_start": 559,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Arg62Arg",
"transcript": "NM_001330193.1",
"protein_id": "NP_001317122.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 570,
"cds_start": 184,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Arg62Arg",
"transcript": "ENST00000534285.5",
"protein_id": "ENSP00000431464.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 570,
"cds_start": 184,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2075,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.158C>A",
"hgvs_p": null,
"transcript": "ENST00000526304.5",
"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": 514,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.286C>A",
"hgvs_p": null,
"transcript": "ENST00000528442.5",
"protein_id": "ENSP00000432555.1",
"transcript_support_level": 3,
"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": 783,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.222C>A",
"hgvs_p": null,
"transcript": "ENST00000528470.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 579,
"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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*726C>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*558C>A",
"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": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.184C>A",
"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": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "c.-207C>A",
"hgvs_p": null,
"transcript": "NM_001318065.1",
"protein_id": "NP_001304994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"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": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*726C>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"hgvs_c": "n.*558C>A",
"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
}
],
"gene_symbol": "RRM1",
"gene_hgnc_id": 10451,
"dbsnp": "rs183484",
"frequency_reference_population": 0.49744043,
"hom_count_reference_population": 207237,
"allele_count_reference_population": 792150,
"gnomad_exomes_af": 0.508754,
"gnomad_genomes_af": 0.389995,
"gnomad_exomes_ac": 732987,
"gnomad_genomes_ac": 59163,
"gnomad_exomes_homalt": 193093,
"gnomad_genomes_homalt": 14144,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.11999999731779099,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.824,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BA1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000300738.10",
"gene_symbol": "RRM1",
"hgnc_id": 10451,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.850C>A",
"hgvs_p": "p.Arg284Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}