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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: 13-77051089-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77051089&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 77051089,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_015057.5",
"consequences": [
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13827_13828delCT",
"hgvs_p": "p.Phe4609fs",
"transcript": "NM_015057.5",
"protein_id": "NP_055872.4",
"transcript_support_level": null,
"aa_start": 4609,
"aa_end": null,
"aa_length": 4678,
"cds_start": 13827,
"cds_end": null,
"cds_length": 14037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000544440.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015057.5"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13827_13828delCT",
"hgvs_p": "p.Phe4609fs",
"transcript": "ENST00000544440.7",
"protein_id": "ENSP00000444596.2",
"transcript_support_level": 1,
"aa_start": 4609,
"aa_end": null,
"aa_length": 4678,
"cds_start": 13827,
"cds_end": null,
"cds_length": 14037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015057.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544440.7"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.14007_14008delCT",
"hgvs_p": "p.Phe4669fs",
"transcript": "ENST00000357337.11",
"protein_id": "ENSP00000349892.6",
"transcript_support_level": 1,
"aa_start": 4669,
"aa_end": null,
"aa_length": 4738,
"cds_start": 14007,
"cds_end": null,
"cds_length": 14217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357337.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.566-24427_566-24426delGA",
"hgvs_p": null,
"transcript": "ENST00000638147.2",
"protein_id": "ENSP00000490953.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638147.2"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.14109_14110delCT",
"hgvs_p": "p.Phe4703fs",
"transcript": "ENST00000683697.1",
"protein_id": "ENSP00000508153.1",
"transcript_support_level": null,
"aa_start": 4703,
"aa_end": null,
"aa_length": 4772,
"cds_start": 14109,
"cds_end": null,
"cds_length": 14319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683697.1"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 84,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.14049_14050delCT",
"hgvs_p": "p.Phe4683fs",
"transcript": "ENST00000682321.1",
"protein_id": "ENSP00000508023.1",
"transcript_support_level": null,
"aa_start": 4683,
"aa_end": null,
"aa_length": 4752,
"cds_start": 14049,
"cds_end": null,
"cds_length": 14259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682321.1"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13893_13894delCT",
"hgvs_p": "p.Phe4631fs",
"transcript": "ENST00000683823.1",
"protein_id": "ENSP00000507196.1",
"transcript_support_level": null,
"aa_start": 4631,
"aa_end": null,
"aa_length": 4700,
"cds_start": 13893,
"cds_end": null,
"cds_length": 14103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683823.1"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13845_13846delCT",
"hgvs_p": "p.Phe4615fs",
"transcript": "ENST00000932841.1",
"protein_id": "ENSP00000602900.1",
"transcript_support_level": null,
"aa_start": 4615,
"aa_end": null,
"aa_length": 4684,
"cds_start": 13845,
"cds_end": null,
"cds_length": 14055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932841.1"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 83,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13788_13789delCT",
"hgvs_p": "p.Phe4596fs",
"transcript": "ENST00000695079.1",
"protein_id": "ENSP00000511683.1",
"transcript_support_level": null,
"aa_start": 4596,
"aa_end": null,
"aa_length": 4665,
"cds_start": 13788,
"cds_end": null,
"cds_length": 13998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695079.1"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 82,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13695_13696delCT",
"hgvs_p": "p.Phe4565fs",
"transcript": "ENST00000684354.1",
"protein_id": "ENSP00000507330.1",
"transcript_support_level": null,
"aa_start": 4565,
"aa_end": null,
"aa_length": 4634,
"cds_start": 13695,
"cds_end": null,
"cds_length": 13905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684354.1"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 82,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13620_13621delCT",
"hgvs_p": "p.Phe4540fs",
"transcript": "ENST00000695080.1",
"protein_id": "ENSP00000511684.1",
"transcript_support_level": null,
"aa_start": 4540,
"aa_end": null,
"aa_length": 4609,
"cds_start": 13620,
"cds_end": null,
"cds_length": 13830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695080.1"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13404_13405delCT",
"hgvs_p": "p.Phe4468fs",
"transcript": "ENST00000695081.1",
"protein_id": "ENSP00000511685.1",
"transcript_support_level": null,
"aa_start": 4468,
"aa_end": null,
"aa_length": 4537,
"cds_start": 13404,
"cds_end": null,
"cds_length": 13614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695081.1"
},
{
"aa_ref": "FC",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.2973_2974delCT",
"hgvs_p": "p.Phe991fs",
"transcript": "ENST00000429715.1",
"protein_id": "ENSP00000413907.1",
"transcript_support_level": 2,
"aa_start": 991,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429715.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.170-46834_170-46833delGA",
"hgvs_p": null,
"transcript": "ENST00000638101.1",
"protein_id": "ENSP00000490535.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638101.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "c.173-24427_173-24426delGA",
"hgvs_p": null,
"transcript": "ENST00000635838.1",
"protein_id": "ENSP00000490835.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": null,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.12201_12202delCT",
"hgvs_p": null,
"transcript": "ENST00000695078.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000695078.1"
},
{
"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": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.962_963delCT",
"hgvs_p": null,
"transcript": "ENST00000695082.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000695082.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.4051_4052delCT",
"hgvs_p": null,
"transcript": "ENST00000695083.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000695083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "n.295-24427_295-24426delGA",
"hgvs_p": null,
"transcript": "ENST00000461131.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000461131.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2-AS1",
"gene_hgnc_id": 41023,
"hgvs_c": "n.356+23969_356+23970delGA",
"hgvs_p": null,
"transcript": "ENST00000636737.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000636737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "n.211+54964_211+54965delGA",
"hgvs_p": null,
"transcript": "ENST00000637192.1",
"protein_id": "ENSP00000489931.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000637192.1"
}
],
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"dbsnp": null,
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_015057.5",
"gene_symbol": "MYCBP2",
"hgnc_id": 23386,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.13827_13828delCT",
"hgvs_p": "p.Phe4609fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000638147.2",
"gene_symbol": "ENSG00000283208",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.566-24427_566-24426delGA",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000636737.1",
"gene_symbol": "MYCBP2-AS1",
"hgnc_id": 41023,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.356+23969_356+23970delGA",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}