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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: 2-10123478-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=10123478&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 10123478,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001165931.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asp89Gly",
"transcript": "NM_001034.4",
"protein_id": "NP_001025.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 389,
"cds_start": 266,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": "ENST00000304567.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asp89Gly",
"transcript": "ENST00000304567.10",
"protein_id": "ENSP00000302955.4",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 389,
"cds_start": 266,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3258,
"mane_select": "NM_001034.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304567.10"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Asp149Gly",
"transcript": "ENST00000360566.6",
"protein_id": "ENSP00000353770.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 449,
"cds_start": 446,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360566.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.116A>G",
"hgvs_p": "p.Asp39Gly",
"transcript": "ENST00000615152.5",
"protein_id": "ENSP00000484183.2",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 339,
"cds_start": 116,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615152.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Asp149Gly",
"transcript": "NM_001165931.1",
"protein_id": "NP_001159403.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 449,
"cds_start": 446,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165931.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asp89Gly",
"transcript": "ENST00000641198.1",
"protein_id": "ENSP00000493399.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 389,
"cds_start": 266,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641198.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asp89Gly",
"transcript": "ENST00000931747.1",
"protein_id": "ENSP00000601806.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 389,
"cds_start": 266,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931747.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asp89Gly",
"transcript": "ENST00000931750.1",
"protein_id": "ENSP00000601809.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 388,
"cds_start": 266,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931750.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asp89Gly",
"transcript": "ENST00000931751.1",
"protein_id": "ENSP00000601810.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 384,
"cds_start": 266,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931751.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asp89Gly",
"transcript": "ENST00000931748.1",
"protein_id": "ENSP00000601807.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 376,
"cds_start": 266,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 3225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931748.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Asp64Gly",
"transcript": "ENST00000931749.1",
"protein_id": "ENSP00000601808.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 364,
"cds_start": 191,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931749.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.Asp89Gly",
"transcript": "ENST00000869144.1",
"protein_id": "ENSP00000539203.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 268,
"cds_start": 266,
"cds_end": null,
"cds_length": 807,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869144.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "n.353A>G",
"hgvs_p": null,
"transcript": "ENST00000459969.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000459969.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "n.411A>G",
"hgvs_p": null,
"transcript": "ENST00000461327.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461327.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "n.313A>G",
"hgvs_p": null,
"transcript": "ENST00000491447.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491447.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "n.326A>G",
"hgvs_p": null,
"transcript": "ENST00000498343.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498343.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "n.266A>G",
"hgvs_p": null,
"transcript": "ENST00000641498.1",
"protein_id": "ENSP00000493425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641498.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "n.335A>G",
"hgvs_p": null,
"transcript": "ENST00000652660.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000652660.1"
},
{
"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": "RRM2",
"gene_hgnc_id": 10452,
"hgvs_c": "n.326A>G",
"hgvs_p": null,
"transcript": "NR_164157.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164157.1"
}
],
"gene_symbol": "RRM2",
"gene_hgnc_id": 10452,
"dbsnp": null,
"frequency_reference_population": 0.000001368107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9028205871582031,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.738,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8633,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.309,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001165931.1",
"gene_symbol": "RRM2",
"hgnc_id": 10452,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Asp149Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}