← 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: 8-102212833-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=102212833&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RRM2B",
"hgnc_id": 17296,
"hgvs_c": "c.1062G>C",
"hgvs_p": "p.Met354Ile",
"inheritance_mode": "AR,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001172477.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Moderate,PP5_Very_Strong",
"acmg_score": 10,
"allele_count_reference_population": 83,
"alphamissense_prediction": null,
"alphamissense_score": 0.9665,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "8",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": " and Fanconi-type renal dysfunction, autosomal dominant 5, sensorineural deafness,Mitochondrial DNA depletion syndrome 8a,Progressive external ophthalmoplegia with mitochondrial DNA deletions,RRM2B-related mitochondrial disease,Rod-cone dystrophy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:4 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8736498355865479,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 351,
"aa_ref": "M",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1056,
"cds_start": 846,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_015713.5",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.846G>C",
"hgvs_p": "p.Met282Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251810.8",
"protein_coding": true,
"protein_id": "NP_056528.2",
"strand": false,
"transcript": "NM_015713.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 351,
"aa_ref": "M",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1056,
"cds_start": 846,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000251810.8",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.846G>C",
"hgvs_p": "p.Met282Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015713.5",
"protein_coding": true,
"protein_id": "ENSP00000251810.3",
"strand": false,
"transcript": "ENST00000251810.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 299,
"aa_ref": "M",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 900,
"cdna_start": 690,
"cds_end": null,
"cds_length": 900,
"cds_start": 690,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000395912.6",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.690G>C",
"hgvs_p": "p.Met230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379248.2",
"strand": false,
"transcript": "ENST00000395912.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 139,
"aa_ref": "M",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 420,
"cdna_start": 210,
"cds_end": null,
"cds_length": 420,
"cds_start": 210,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000519317.5",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.210G>C",
"hgvs_p": "p.Met70Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430641.1",
"strand": false,
"transcript": "ENST00000519317.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 66,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 201,
"cdna_start": null,
"cds_end": null,
"cds_length": 201,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519962.5",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.49-4548G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429140.1",
"strand": false,
"transcript": "ENST00000519962.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 423,
"aa_ref": "M",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4913,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1062,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001172477.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.1062G>C",
"hgvs_p": "p.Met354Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165948.1",
"strand": false,
"transcript": "NM_001172477.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 407,
"aa_ref": "M",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1224,
"cds_start": 1014,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000522368.5",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.1014G>C",
"hgvs_p": "p.Met338Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428115.1",
"strand": false,
"transcript": "ENST00000522368.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 351,
"aa_ref": "M",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3731,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1056,
"cds_start": 846,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000930764.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.846G>C",
"hgvs_p": "p.Met282Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600823.1",
"strand": false,
"transcript": "ENST00000930764.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 350,
"aa_ref": "M",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1053,
"cds_start": 843,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854932.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.843G>C",
"hgvs_p": "p.Met281Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524991.1",
"strand": false,
"transcript": "ENST00000854932.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 348,
"aa_ref": "M",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1047,
"cds_start": 846,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930763.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.846G>C",
"hgvs_p": "p.Met282Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600822.1",
"strand": false,
"transcript": "ENST00000930763.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 299,
"aa_ref": "M",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 777,
"cds_end": null,
"cds_length": 900,
"cds_start": 690,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001172478.2",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.690G>C",
"hgvs_p": "p.Met230Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165949.1",
"strand": false,
"transcript": "NM_001172478.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 178,
"aa_ref": "M",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 418,
"cds_end": null,
"cds_length": 537,
"cds_start": 327,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930765.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.327G>C",
"hgvs_p": "p.Met109Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600824.1",
"strand": false,
"transcript": "ENST00000930765.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941786.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "c.685-4548G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611845.1",
"strand": false,
"transcript": "ENST00000941786.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395910.6",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "n.233G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000395910.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 421,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000519125.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "n.364G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000519125.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 389,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522394.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "n.*47G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429578.1",
"strand": false,
"transcript": "ENST00000522394.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 389,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000522394.1",
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"hgvs_c": "n.*47G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429578.1",
"strand": false,
"transcript": "ENST00000522394.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs182614164",
"effect": "missense_variant",
"frequency_reference_population": 0.00005147804,
"gene_hgnc_id": 17296,
"gene_symbol": "RRM2B",
"gnomad_exomes_ac": 75,
"gnomad_exomes_af": 0.0000513678,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000525355,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "RRM2B-related 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",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 102212833,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.958,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001172477.1"
}
]
}