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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: 14-105168369-CCAGCAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105168369&ref=CCAGCAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105168369,
"ref": "CCAGCAG",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_002226.5",
"consequences": [
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "NM_002226.5",
"protein_id": "NP_002217.3",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1238,
"cds_start": 46,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331782.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002226.5"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000331782.8",
"protein_id": "ENSP00000328169.3",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 1238,
"cds_start": 46,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002226.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331782.8"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000347004.2",
"protein_id": "ENSP00000328566.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 1200,
"cds_start": 46,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347004.2"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000938643.1",
"protein_id": "ENSP00000608702.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1239,
"cds_start": 46,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938643.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "NM_145159.3",
"protein_id": "NP_660142.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1200,
"cds_start": 46,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145159.3"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000938642.1",
"protein_id": "ENSP00000608701.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1200,
"cds_start": 46,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938642.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966345.1",
"protein_id": "ENSP00000636404.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1198,
"cds_start": 46,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966345.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966337.1",
"protein_id": "ENSP00000636396.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1194,
"cds_start": 46,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966337.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966339.1",
"protein_id": "ENSP00000636398.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1180,
"cds_start": 46,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966339.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966344.1",
"protein_id": "ENSP00000636403.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1162,
"cds_start": 46,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966344.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966340.1",
"protein_id": "ENSP00000636399.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1157,
"cds_start": 46,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966340.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966341.1",
"protein_id": "ENSP00000636400.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1156,
"cds_start": 46,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966341.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966338.1",
"protein_id": "ENSP00000636397.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1119,
"cds_start": 46,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966338.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000938644.1",
"protein_id": "ENSP00000608703.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1113,
"cds_start": 46,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938644.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966342.1",
"protein_id": "ENSP00000636401.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1075,
"cds_start": 46,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966342.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "ENST00000966343.1",
"protein_id": "ENSP00000636402.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1061,
"cds_start": 46,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966343.1"
},
{
"aa_ref": "LL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del",
"transcript": "XM_047431354.1",
"protein_id": "XP_047287310.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 749,
"cds_start": 46,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431354.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257622",
"gene_hgnc_id": null,
"hgvs_c": "n.67-10612_67-10607delCTGCTG",
"hgvs_p": null,
"transcript": "ENST00000548203.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000548203.1"
}
],
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"dbsnp": "rs587632836",
"frequency_reference_population": 0.0000023081896,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000230819,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 1.33,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002226.5",
"gene_symbol": "JAG2",
"hgnc_id": 6189,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.46_51delCTGCTG",
"hgvs_p": "p.Leu16_Leu17del"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548203.1",
"gene_symbol": "ENSG00000257622",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.67-10612_67-10607delCTGCTG",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}