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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: 1-235450253-TCCACAGTTCCGTCAGTTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235450253&ref=TCCACAGTTCCGTCAGTTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235450253,
"ref": "TCCACAGTTCCGTCAGTTC",
"alt": "T",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000366600.8",
"consequences": [
{
"aa_ref": "ELTELW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.1438_1455delGAACTGACGGAACTGTGG",
"hgvs_p": "p.Glu480_Trp485del",
"transcript": "NM_152490.5",
"protein_id": "NP_689703.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 500,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": "ENST00000366600.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ELTELW",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.1438_1455delGAACTGACGGAACTGTGG",
"hgvs_p": "p.Glu480_Trp485del",
"transcript": "ENST00000366600.8",
"protein_id": "ENSP00000355559.3",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 500,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": "NM_152490.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.*1496_*1513delAGTTCCGTCAGTTCCCAC",
"hgvs_p": null,
"transcript": "NM_003193.5",
"protein_id": "NP_003184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "ENST00000642610.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.*1496_*1513delAGTTCCGTCAGTTCCCAC",
"hgvs_p": null,
"transcript": "ENST00000642610.2",
"protein_id": "ENSP00000494796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "NM_003193.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ELTELW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.1216_1233delGAACTGACGGAACTGTGG",
"hgvs_p": "p.Glu406_Trp411del",
"transcript": "ENST00000675555.1",
"protein_id": "ENSP00000501896.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 426,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ELTELW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.1438_1455delGAACTGACGGAACTGTGG",
"hgvs_p": "p.Glu480_Trp485del",
"transcript": "XM_006711749.4",
"protein_id": "XP_006711812.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 586,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ELTELW",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.1561_1578delGAACTGACGGAACTGTGG",
"hgvs_p": "p.Glu521_Trp526del",
"transcript": "XM_017000394.2",
"protein_id": "XP_016855883.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 541,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 4842,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "n.*378_*395delGAACTGACGGAACTGTGG",
"hgvs_p": null,
"transcript": "ENST00000675193.1",
"protein_id": "ENSP00000502069.1",
"transcript_support_level": null,
"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": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.*1496_*1513delAGTTCCGTCAGTTCCCAC",
"hgvs_p": null,
"transcript": "NM_001287801.2",
"protein_id": "NP_001274730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": -4,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.*1496_*1513delAGTTCCGTCAGTTCCCAC",
"hgvs_p": null,
"transcript": "NM_001079515.3",
"protein_id": "NP_001072983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "c.*1086_*1103delGAACTGACGGAACTGTGG",
"hgvs_p": null,
"transcript": "ENST00000676288.1",
"protein_id": "ENSP00000502392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.*1496_*1513delAGTTCCGTCAGTTCCCAC",
"hgvs_p": null,
"transcript": "NM_001287802.2",
"protein_id": "NP_001274731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"hgvs_c": "n.*378_*395delGAACTGACGGAACTGTGG",
"hgvs_p": null,
"transcript": "ENST00000675193.1",
"protein_id": "ENSP00000502069.1",
"transcript_support_level": null,
"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": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "B3GALNT2",
"gene_hgnc_id": 28596,
"dbsnp": "rs863224849",
"frequency_reference_population": 0.0000013681107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"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": 8.545,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366600.8",
"gene_symbol": "B3GALNT2",
"hgnc_id": 28596,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1438_1455delGAACTGACGGAACTGTGG",
"hgvs_p": "p.Glu480_Trp485del"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000642610.2",
"gene_symbol": "TBCE",
"hgnc_id": 11582,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1496_*1513delAGTTCCGTCAGTTCCCAC",
"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
}