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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: 19-54188277-TGGGGGCCACAGGTGAACAGG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54188277&ref=TGGGGGCCACAGGTGAACAGG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54188277,
"ref": "TGGGGGCCACAGGTGAACAGG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000245615.6",
"consequences": [
{
"aa_ref": "TLFTCGPH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs",
"transcript": "NM_024298.5",
"protein_id": "NP_077274.3",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 472,
"cds_start": 126,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": "ENST00000245615.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TLFTCGPH",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs",
"transcript": "ENST00000245615.6",
"protein_id": "ENSP00000245615.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 472,
"cds_start": 126,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": "NM_024298.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PVHLWPP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.34_53delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Pro12fs",
"transcript": "ENST00000431666.6",
"protein_id": "ENSP00000410503.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 399,
"cds_start": 34,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TLFTCGPH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs",
"transcript": "ENST00000391754.5",
"protein_id": "ENSP00000375634.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 344,
"cds_start": 126,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1797,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "n.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": null,
"transcript": "ENST00000437868.5",
"protein_id": "ENSP00000404915.1",
"transcript_support_level": 1,
"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": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PVHLWPP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.34_53delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Pro12fs",
"transcript": "NM_001146056.3",
"protein_id": "NP_001139528.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 399,
"cds_start": 34,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PVHLWPP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.34_53delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Pro12fs",
"transcript": "NM_001146083.3",
"protein_id": "NP_001139555.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 399,
"cds_start": 34,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PVHLWPP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.34_53delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Pro12fs",
"transcript": "ENST00000338624.10",
"protein_id": "ENSP00000344377.5",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 399,
"cds_start": 34,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TLFTCGPH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs",
"transcript": "NM_001146082.3",
"protein_id": "NP_001139554.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 344,
"cds_start": 126,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TLFTCGPH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs",
"transcript": "ENST00000414665.5",
"protein_id": "ENSP00000388250.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 255,
"cds_start": 126,
"cds_end": null,
"cds_length": 768,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TLFTCGPH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs",
"transcript": "ENST00000453320.1",
"protein_id": "ENSP00000410320.1",
"transcript_support_level": 4,
"aa_start": 42,
"aa_end": null,
"aa_length": 169,
"cds_start": 126,
"cds_end": null,
"cds_length": 511,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.-19_1delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.His1fs",
"transcript": "ENST00000449249.5",
"protein_id": "ENSP00000406794.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 123,
"cds_start": 1,
"cds_end": null,
"cds_length": 372,
"cdna_start": 1,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TLFTCGPH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs",
"transcript": "XM_011527299.4",
"protein_id": "XP_011525601.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 472,
"cds_start": 126,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TLFTCGPH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs",
"transcript": "XM_011527300.3",
"protein_id": "XP_011525602.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 472,
"cds_start": 126,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 2441,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "n.116_135delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": null,
"transcript": "ENST00000464098.5",
"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": 493,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "n.262_281delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": null,
"transcript": "ENST00000474910.5",
"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": 629,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "n.152_171delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": null,
"transcript": "ENST00000491216.5",
"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": 564,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "n.361_380delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": null,
"transcript": "ENST00000495968.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 465,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"hgvs_c": "c.-19_1delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": null,
"transcript": "ENST00000449249.5",
"protein_id": "ENSP00000406794.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MBOAT7",
"gene_hgnc_id": 15505,
"dbsnp": "rs886041058",
"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": 8.574,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000245615.6",
"gene_symbol": "MBOAT7",
"hgnc_id": 15505,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.126_145delCCTGTTCACCTGTGGCCCCC",
"hgvs_p": "p.Leu43fs"
}
],
"clinvar_disease": " autosomal recessive 57,Intellectual disability",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Intellectual disability, autosomal recessive 57",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}