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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: 13-77057078-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77057078&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 77057078,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015057.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13345A>C",
"hgvs_p": "p.Ile4449Leu",
"transcript": "NM_015057.5",
"protein_id": "NP_055872.4",
"transcript_support_level": null,
"aa_start": 4449,
"aa_end": null,
"aa_length": 4678,
"cds_start": 13345,
"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": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13345A>C",
"hgvs_p": "p.Ile4449Leu",
"transcript": "ENST00000544440.7",
"protein_id": "ENSP00000444596.2",
"transcript_support_level": 1,
"aa_start": 4449,
"aa_end": null,
"aa_length": 4678,
"cds_start": 13345,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13525A>C",
"hgvs_p": "p.Ile4509Leu",
"transcript": "ENST00000357337.11",
"protein_id": "ENSP00000349892.6",
"transcript_support_level": 1,
"aa_start": 4509,
"aa_end": null,
"aa_length": 4738,
"cds_start": 13525,
"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.566-18440T>G",
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13627A>C",
"hgvs_p": "p.Ile4543Leu",
"transcript": "ENST00000683697.1",
"protein_id": "ENSP00000508153.1",
"transcript_support_level": null,
"aa_start": 4543,
"aa_end": null,
"aa_length": 4772,
"cds_start": 13627,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 81,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13567A>C",
"hgvs_p": "p.Ile4523Leu",
"transcript": "ENST00000682321.1",
"protein_id": "ENSP00000508023.1",
"transcript_support_level": null,
"aa_start": 4523,
"aa_end": null,
"aa_length": 4752,
"cds_start": 13567,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13411A>C",
"hgvs_p": "p.Ile4471Leu",
"transcript": "ENST00000683823.1",
"protein_id": "ENSP00000507196.1",
"transcript_support_level": null,
"aa_start": 4471,
"aa_end": null,
"aa_length": 4700,
"cds_start": 13411,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13363A>C",
"hgvs_p": "p.Ile4455Leu",
"transcript": "ENST00000932841.1",
"protein_id": "ENSP00000602900.1",
"transcript_support_level": null,
"aa_start": 4455,
"aa_end": null,
"aa_length": 4684,
"cds_start": 13363,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 80,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13306A>C",
"hgvs_p": "p.Ile4436Leu",
"transcript": "ENST00000695079.1",
"protein_id": "ENSP00000511683.1",
"transcript_support_level": null,
"aa_start": 4436,
"aa_end": null,
"aa_length": 4665,
"cds_start": 13306,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 79,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13213A>C",
"hgvs_p": "p.Ile4405Leu",
"transcript": "ENST00000684354.1",
"protein_id": "ENSP00000507330.1",
"transcript_support_level": null,
"aa_start": 4405,
"aa_end": null,
"aa_length": 4634,
"cds_start": 13213,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 82,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.13138A>C",
"hgvs_p": "p.Ile4380Leu",
"transcript": "ENST00000695080.1",
"protein_id": "ENSP00000511684.1",
"transcript_support_level": null,
"aa_start": 4380,
"aa_end": null,
"aa_length": 4609,
"cds_start": 13138,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.12922A>C",
"hgvs_p": "p.Ile4308Leu",
"transcript": "ENST00000695081.1",
"protein_id": "ENSP00000511685.1",
"transcript_support_level": null,
"aa_start": 4308,
"aa_end": null,
"aa_length": 4537,
"cds_start": 12922,
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.2491A>C",
"hgvs_p": "p.Ile831Leu",
"transcript": "ENST00000429715.1",
"protein_id": "ENSP00000413907.1",
"transcript_support_level": 2,
"aa_start": 831,
"aa_end": null,
"aa_length": 1060,
"cds_start": 2491,
"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.170-40847T>G",
"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.173-18440T>G",
"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": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.11719A>C",
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.3569A>C",
"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.295-18440T>G",
"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.357-18440T>G",
"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.212-52570T>G",
"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": "rs781477677",
"frequency_reference_population": 0.000010540766,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000095861,
"gnomad_genomes_af": 0.0000196931,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14982879161834717,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.296,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2553,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.27,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015057.5",
"gene_symbol": "MYCBP2",
"hgnc_id": 23386,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.13345A>C",
"hgvs_p": "p.Ile4449Leu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000638147.2",
"gene_symbol": "ENSG00000283208",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.566-18440T>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000636737.1",
"gene_symbol": "MYCBP2-AS1",
"hgnc_id": 41023,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.357-18440T>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}