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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: 8-102214136-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=102214136&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 102214136,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000251810.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Cys236Tyr",
"transcript": "NM_015713.5",
"protein_id": "NP_056528.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 351,
"cds_start": 707,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": "ENST00000251810.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Cys236Tyr",
"transcript": "ENST00000251810.8",
"protein_id": "ENSP00000251810.3",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 351,
"cds_start": 707,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": "NM_015713.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Cys184Tyr",
"transcript": "ENST00000395912.6",
"protein_id": "ENSP00000379248.2",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 299,
"cds_start": 551,
"cds_end": null,
"cds_length": 900,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.71G>A",
"hgvs_p": "p.Cys24Tyr",
"transcript": "ENST00000519317.5",
"protein_id": "ENSP00000430641.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 139,
"cds_start": 71,
"cds_end": null,
"cds_length": 420,
"cdna_start": 71,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.49-5851G>A",
"hgvs_p": null,
"transcript": "ENST00000519962.5",
"protein_id": "ENSP00000429140.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": -4,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.923G>A",
"hgvs_p": "p.Cys308Tyr",
"transcript": "NM_001172477.1",
"protein_id": "NP_001165948.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 423,
"cds_start": 923,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 4913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Cys292Tyr",
"transcript": "ENST00000522368.5",
"protein_id": "ENSP00000428115.1",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 407,
"cds_start": 875,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Cys184Tyr",
"transcript": "NM_001172478.2",
"protein_id": "NP_001165949.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 299,
"cds_start": 551,
"cds_end": null,
"cds_length": 900,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 4618,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "n.94G>A",
"hgvs_p": null,
"transcript": "ENST00000395910.6",
"protein_id": null,
"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": 800,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "n.225G>A",
"hgvs_p": null,
"transcript": "ENST00000519125.1",
"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": 421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"hgvs_c": "n.123-1247G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RRM2B",
"gene_hgnc_id": 17296,
"dbsnp": "rs121918309",
"frequency_reference_population": 6.845386e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84539e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9709680080413818,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.987,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9454,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.858,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000251810.8",
"gene_symbol": "RRM2B",
"hgnc_id": 17296,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Cys236Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}