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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: 2-147935685-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=147935685&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 147935685,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_181741.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "NM_181741.4",
"protein_id": "NP_859525.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "ENST00000392857.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "ENST00000392857.10",
"protein_id": "ENSP00000376597.5",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 6547,
"mane_select": "NM_181741.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "NM_001190879.3",
"protein_id": "NP_001177808.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 6701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "NM_001374270.1",
"protein_id": "NP_001361199.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "NM_002552.5",
"protein_id": "NP_002543.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "NM_181742.4",
"protein_id": "NP_859526.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 6546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "ENST00000264169.6",
"protein_id": "ENSP00000264169.2",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "ENST00000535373.5",
"protein_id": "ENSP00000441953.1",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 6710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.914T>C",
"hgvs_p": "p.Leu305Ser",
"transcript": "NM_001190882.3",
"protein_id": "NP_001177811.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 362,
"cds_start": 914,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 6473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.914T>C",
"hgvs_p": "p.Leu305Ser",
"transcript": "ENST00000540442.5",
"protein_id": "ENSP00000438326.1",
"transcript_support_level": 2,
"aa_start": 305,
"aa_end": null,
"aa_length": 362,
"cds_start": 914,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 6472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Leu295Ser",
"transcript": "NM_001190881.3",
"protein_id": "NP_001177810.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 352,
"cds_start": 884,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Leu295Ser",
"transcript": "NM_001374272.1",
"protein_id": "NP_001361201.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 352,
"cds_start": 884,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 6612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Leu295Ser",
"transcript": "ENST00000536575.5",
"protein_id": "ENSP00000441502.1",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 352,
"cds_start": 884,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 6328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser",
"transcript": "XM_011511255.3",
"protein_id": "XP_011509557.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 436,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ORC4",
"gene_hgnc_id": 8490,
"dbsnp": "rs780860667",
"frequency_reference_population": 0.0000105445715,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000958859,
"gnomad_genomes_af": 0.0000197192,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9810916185379028,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.97,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9951,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.736,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181741.4",
"gene_symbol": "ORC4",
"hgnc_id": 8490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Leu379Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}