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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: 3-52404490-C-CGTCATCCTCATA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52404490&ref=C&alt=CGTCATCCTCATA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52404490,
"ref": "C",
"alt": "CGTCATCCTCATA",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000460680.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1201_1212dupTATGAGGATGAC",
"hgvs_p": "p.Asp404_Glu405insTyrGluAspAsp",
"transcript": "NM_004656.4",
"protein_id": "NP_004647.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 729,
"cds_start": 1212,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": "ENST00000460680.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1201_1212dupTATGAGGATGAC",
"hgvs_p": "p.Asp404_Glu405insTyrGluAspAsp",
"transcript": "ENST00000460680.6",
"protein_id": "ENSP00000417132.1",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 729,
"cds_start": 1212,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": "NM_004656.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1147_1158dupTATGAGGATGAC",
"hgvs_p": "p.Asp386_Glu387insTyrGluAspAsp",
"transcript": "NM_001410772.1",
"protein_id": "NP_001397701.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 711,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1147_1158dupTATGAGGATGAC",
"hgvs_p": "p.Asp386_Glu387insTyrGluAspAsp",
"transcript": "ENST00000296288.9",
"protein_id": "ENSP00000296288.5",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 711,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1201_1212dupTATGAGGATGAC",
"hgvs_p": "p.Asp404_Glu405insTyrGluAspAsp",
"transcript": "XM_011534149.4",
"protein_id": "XP_011532451.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 752,
"cds_start": 1212,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1201_1212dupTATGAGGATGAC",
"hgvs_p": "p.Asp404_Glu405insTyrGluAspAsp",
"transcript": "XM_011534150.4",
"protein_id": "XP_011532452.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 737,
"cds_start": 1212,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1147_1158dupTATGAGGATGAC",
"hgvs_p": "p.Asp386_Glu387insTyrGluAspAsp",
"transcript": "XM_011534151.4",
"protein_id": "XP_011532453.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 734,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1201_1212dupTATGAGGATGAC",
"hgvs_p": "p.Asp404_Glu405insTyrGluAspAsp",
"transcript": "XM_011534152.3",
"protein_id": "XP_011532454.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 714,
"cds_start": 1212,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "DYEDD",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.1147_1158dupTATGAGGATGAC",
"hgvs_p": "p.Asp386_Glu387insTyrGluAspAsp",
"transcript": "XM_047449044.1",
"protein_id": "XP_047305000.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 696,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3501,
"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": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "n.629_640dupTATGAGGATGAC",
"hgvs_p": null,
"transcript": "ENST00000490804.1",
"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": 870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"hgvs_c": "c.-27_-16dupTATGAGGATGAC",
"hgvs_p": null,
"transcript": "ENST00000469613.5",
"protein_id": "ENSP00000418320.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": -4,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BAP1",
"gene_hgnc_id": 950,
"dbsnp": "rs776606194",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -5.653,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000460680.6",
"gene_symbol": "BAP1",
"hgnc_id": 950,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1201_1212dupTATGAGGATGAC",
"hgvs_p": "p.Asp404_Glu405insTyrGluAspAsp"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}