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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: 13-77305241-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77305241&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 77305241,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000544440.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "NM_015057.5",
"protein_id": "NP_055872.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4678,
"cds_start": -4,
"cds_end": null,
"cds_length": 14037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15077,
"mane_select": "ENST00000544440.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000544440.7",
"protein_id": "ENSP00000444596.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4678,
"cds_start": -4,
"cds_end": null,
"cds_length": 14037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15077,
"mane_select": "NM_015057.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000357337.11",
"protein_id": "ENSP00000349892.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4738,
"cds_start": -4,
"cds_end": null,
"cds_length": 14217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000683697.1",
"protein_id": "ENSP00000508153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4772,
"cds_start": -4,
"cds_end": null,
"cds_length": 14319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000682321.1",
"protein_id": "ENSP00000508023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4752,
"cds_start": -4,
"cds_end": null,
"cds_length": 14259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000683823.1",
"protein_id": "ENSP00000507196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4700,
"cds_start": -4,
"cds_end": null,
"cds_length": 14103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000695079.1",
"protein_id": "ENSP00000511683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4665,
"cds_start": -4,
"cds_end": null,
"cds_length": 13998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000684354.1",
"protein_id": "ENSP00000507330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4634,
"cds_start": -4,
"cds_end": null,
"cds_length": 13905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 82,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000695080.1",
"protein_id": "ENSP00000511684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4609,
"cds_start": -4,
"cds_end": null,
"cds_length": 13830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.303-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000695081.1",
"protein_id": "ENSP00000511685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4537,
"cds_start": -4,
"cds_end": null,
"cds_length": 13614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 36,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.213-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000695090.1",
"protein_id": null,
"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": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.49-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000695091.1",
"protein_id": null,
"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": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.49-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000695094.1",
"protein_id": null,
"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": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.316-8567C>T",
"hgvs_p": null,
"transcript": "ENST00000695095.1",
"protein_id": null,
"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": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"dbsnp": "rs7322722",
"frequency_reference_population": 0.1636944,
"hom_count_reference_population": 2334,
"allele_count_reference_population": 24875,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.163694,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 24875,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2334,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.495,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000544440.7",
"gene_symbol": "MYCBP2",
"hgnc_id": 23386,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.303-8567C>T",
"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
}