← 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: 9-35560592-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35560592&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RUSC2",
"hgnc_id": 23625,
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_014806.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9037,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3776485323905945,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3952,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014806.5",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361226.8",
"protein_coding": true,
"protein_id": "NP_055621.2",
"strand": true,
"transcript": "NM_014806.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3952,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361226.8",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014806.5",
"protein_coding": true,
"protein_id": "ENSP00000355177.3",
"strand": true,
"transcript": "ENST00000361226.8",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5636,
"cdna_start": 4521,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3952,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000455600.1",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393922.1",
"strand": true,
"transcript": "ENST00000455600.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5631,
"cdna_start": 4519,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3952,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001135999.2",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129471.2",
"strand": true,
"transcript": "NM_001135999.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5314,
"cdna_start": 4202,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3952,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866950.1",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537009.1",
"strand": true,
"transcript": "ENST00000866950.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 4326,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3952,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000866951.1",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537010.1",
"strand": true,
"transcript": "ENST00000866951.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "R",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4786,
"cdna_start": 3677,
"cds_end": null,
"cds_length": 3723,
"cds_start": 3124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000970667.1",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3124C>G",
"hgvs_p": "p.Arg1042Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640726.1",
"strand": true,
"transcript": "ENST00000970667.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 638,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1318,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001330740.2",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.Arg440Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317669.1",
"strand": true,
"transcript": "NM_001330740.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 5258,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3952,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047424207.1",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280163.1",
"strand": true,
"transcript": "XM_047424207.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5300,
"cdna_start": 4188,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3952,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047424208.1",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3952C>G",
"hgvs_p": "p.Arg1318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280164.1",
"strand": true,
"transcript": "XM_047424208.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1373,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": null,
"cds_end": null,
"cds_length": 4122,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866949.1",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "c.3782+170C>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537008.1",
"strand": true,
"transcript": "ENST00000866949.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_052015.4",
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"hgvs_c": "n.3781C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_052015.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1554645052",
"effect": "missense_variant",
"frequency_reference_population": 6.8434093e-7,
"gene_hgnc_id": 23625,
"gene_symbol": "RUSC2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84341e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.119,
"pos": 35560592,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.198,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_014806.5"
}
]
}