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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: 13-77126432-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77126432&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 77126432,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000544440.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7770G>C",
"hgvs_p": "p.Met2590Ile",
"transcript": "NM_015057.5",
"protein_id": "NP_055872.4",
"transcript_support_level": null,
"aa_start": 2590,
"aa_end": null,
"aa_length": 4678,
"cds_start": 7770,
"cds_end": null,
"cds_length": 14037,
"cdna_start": 8089,
"cdna_end": null,
"cdna_length": 15077,
"mane_select": "ENST00000544440.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7770G>C",
"hgvs_p": "p.Met2590Ile",
"transcript": "ENST00000544440.7",
"protein_id": "ENSP00000444596.2",
"transcript_support_level": 1,
"aa_start": 2590,
"aa_end": null,
"aa_length": 4678,
"cds_start": 7770,
"cds_end": null,
"cds_length": 14037,
"cdna_start": 8089,
"cdna_end": null,
"cdna_length": 15077,
"mane_select": "NM_015057.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7770G>C",
"hgvs_p": "p.Met2590Ile",
"transcript": "ENST00000357337.11",
"protein_id": "ENSP00000349892.6",
"transcript_support_level": 1,
"aa_start": 2590,
"aa_end": null,
"aa_length": 4738,
"cds_start": 7770,
"cds_end": null,
"cds_length": 14217,
"cdna_start": 8089,
"cdna_end": null,
"cdna_length": 15257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7770G>C",
"hgvs_p": "p.Met2590Ile",
"transcript": "ENST00000683697.1",
"protein_id": "ENSP00000508153.1",
"transcript_support_level": null,
"aa_start": 2590,
"aa_end": null,
"aa_length": 4772,
"cds_start": 7770,
"cds_end": null,
"cds_length": 14319,
"cdna_start": 8089,
"cdna_end": null,
"cdna_length": 15359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7845G>C",
"hgvs_p": "p.Met2615Ile",
"transcript": "ENST00000682321.1",
"protein_id": "ENSP00000508023.1",
"transcript_support_level": null,
"aa_start": 2615,
"aa_end": null,
"aa_length": 4752,
"cds_start": 7845,
"cds_end": null,
"cds_length": 14259,
"cdna_start": 8164,
"cdna_end": null,
"cdna_length": 17482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7845G>C",
"hgvs_p": "p.Met2615Ile",
"transcript": "ENST00000683823.1",
"protein_id": "ENSP00000507196.1",
"transcript_support_level": null,
"aa_start": 2615,
"aa_end": null,
"aa_length": 4700,
"cds_start": 7845,
"cds_end": null,
"cds_length": 14103,
"cdna_start": 8164,
"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": 53,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7699-964G>C",
"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": 52,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7660-964G>C",
"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": 52,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7660-964G>C",
"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": 52,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "c.7660-964G>C",
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.911-964G>C",
"hgvs_p": null,
"transcript": "ENST00000466564.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBP2-AS1",
"gene_hgnc_id": 41023,
"hgvs_c": "n.32-2715C>G",
"hgvs_p": null,
"transcript": "ENST00000627409.1",
"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": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283208",
"gene_hgnc_id": null,
"hgvs_c": "n.*442-2715C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1111,
"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": 56,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.3996-964G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15315,
"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": 47,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"hgvs_c": "n.3996-964G>C",
"hgvs_p": null,
"transcript": "ENST00000695086.1",
"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": 8831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYCBP2",
"gene_hgnc_id": 23386,
"dbsnp": "rs193920951",
"frequency_reference_population": 0.000019208295,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000191556,
"gnomad_genomes_af": 0.0000197145,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1478254497051239,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.1059,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.911,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "ENST00000544440.7",
"gene_symbol": "MYCBP2",
"hgnc_id": 23386,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7770G>C",
"hgvs_p": "p.Met2590Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000637192.1",
"gene_symbol": "ENSG00000283208",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*442-2715C>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000627409.1",
"gene_symbol": "MYCBP2-AS1",
"hgnc_id": 41023,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.32-2715C>G",
"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
}