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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: 1-36091266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=36091266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 36091266,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_017825.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.234C>T",
"hgvs_p": "p.Asp78Asp",
"transcript": "NM_017825.3",
"protein_id": "NP_060295.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 363,
"cds_start": 234,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373178.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017825.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.234C>T",
"hgvs_p": "p.Asp78Asp",
"transcript": "ENST00000373178.5",
"protein_id": "ENSP00000362273.4",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 363,
"cds_start": 234,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017825.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373178.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Asp77Asp",
"transcript": "ENST00000896939.1",
"protein_id": "ENSP00000566998.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 362,
"cds_start": 231,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896939.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.222C>T",
"hgvs_p": "p.Asp74Asp",
"transcript": "ENST00000932449.1",
"protein_id": "ENSP00000602508.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 359,
"cds_start": 222,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932449.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Asp72Asp",
"transcript": "ENST00000896940.1",
"protein_id": "ENSP00000566999.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 357,
"cds_start": 216,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896940.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.234C>T",
"hgvs_p": "p.Asp78Asp",
"transcript": "ENST00000896941.1",
"protein_id": "ENSP00000567000.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 341,
"cds_start": 234,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896941.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.234C>T",
"hgvs_p": "p.Asp78Asp",
"transcript": "ENST00000959574.1",
"protein_id": "ENSP00000629633.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 340,
"cds_start": 234,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959574.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.234C>T",
"hgvs_p": "p.Asp78Asp",
"transcript": "ENST00000959573.1",
"protein_id": "ENSP00000629632.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 315,
"cds_start": 234,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"hgvs_c": "c.-154-352C>T",
"hgvs_p": null,
"transcript": "XM_011541636.3",
"protein_id": "XP_011539938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": null,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541636.3"
}
],
"gene_symbol": "ADPRS",
"gene_hgnc_id": 21304,
"dbsnp": "rs768000",
"frequency_reference_population": 0.013400507,
"hom_count_reference_population": 1359,
"allele_count_reference_population": 21630,
"gnomad_exomes_af": 0.0116185,
"gnomad_genomes_af": 0.0305024,
"gnomad_exomes_ac": 16984,
"gnomad_genomes_ac": 4646,
"gnomad_exomes_homalt": 1118,
"gnomad_genomes_homalt": 241,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.114,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_017825.3",
"gene_symbol": "ADPRS",
"hgnc_id": 21304,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.234C>T",
"hgvs_p": "p.Asp78Asp"
}
],
"clinvar_disease": "ADPRS-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ADPRS-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}