← 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: 8-102238827-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=102238827&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 102238827,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_015713.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "NM_015713.5",
"protein_id": "NP_056528.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 351,
"cds_start": 48,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251810.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015713.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000251810.8",
"protein_id": "ENSP00000251810.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 351,
"cds_start": 48,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015713.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251810.8"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000395912.6",
"protein_id": "ENSP00000379248.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 299,
"cds_start": 48,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395912.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000519317.5",
"protein_id": "ENSP00000430641.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 139,
"cds_start": 48,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519317.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000519962.5",
"protein_id": "ENSP00000429140.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 66,
"cds_start": 48,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519962.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000930764.1",
"protein_id": "ENSP00000600823.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 351,
"cds_start": 48,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930764.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000854932.1",
"protein_id": "ENSP00000524991.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 350,
"cds_start": 48,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854932.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000930763.1",
"protein_id": "ENSP00000600822.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 348,
"cds_start": 48,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930763.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "NM_001172478.2",
"protein_id": "NP_001165949.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 299,
"cds_start": 48,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172478.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000941786.1",
"protein_id": "ENSP00000611845.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 278,
"cds_start": 48,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941786.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu",
"transcript": "ENST00000930765.1",
"protein_id": "ENSP00000600824.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 178,
"cds_start": 48,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930765.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.-5G>A",
"hgvs_p": null,
"transcript": "NM_001172477.1",
"protein_id": "NP_001165948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "n.48G>A",
"hgvs_p": null,
"transcript": "ENST00000522394.1",
"protein_id": "ENSP00000429578.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "n.48G>A",
"hgvs_p": null,
"transcript": "ENST00000523957.1",
"protein_id": "ENSP00000427830.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.-53G>A",
"hgvs_p": null,
"transcript": "ENST00000522368.5",
"protein_id": "ENSP00000428115.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522368.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "n.-30G>A",
"hgvs_p": null,
"transcript": "ENST00000517517.1",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000517517.1"
}
],
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"dbsnp": "rs515726180",
"frequency_reference_population": 0.000025407764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000260019,
"gnomad_genomes_af": 0.0000197047,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.5559999942779541,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.656,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.51,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.563670790897085,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP5_Very_Strong,BP4",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 1,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BP4"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_015713.5",
"gene_symbol": "RRM2B",
"hgnc_id": 17296,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.48G>A",
"hgvs_p": "p.Glu16Glu"
}
],
"clinvar_disease": " and Fanconi-type renal dysfunction, autosomal dominant 5, sensorineural deafness,Mitochondrial DNA depletion syndrome 8a,Mitochondrial disease,Progressive external ophthalmoplegia with mitochondrial DNA deletions,RRM2B-related mitochondrial disease,Rod-cone dystrophy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:3 O:1",
"phenotype_combined": "RRM2B-related mitochondrial disease|Mitochondrial disease|not provided|Mitochondrial DNA depletion syndrome 8a|Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5;Mitochondrial DNA depletion syndrome 8a",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}