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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: 17-50508193-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50508193&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50508193,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "XM_047436908.1",
"consequences": [
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.142+93T>C",
"hgvs_p": null,
"transcript": "XM_047436908.1",
"protein_id": "XP_047292864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 990,
"cds_start": null,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436908.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249451",
"gene_hgnc_id": null,
"hgvs_c": "n.27+109A>G",
"hgvs_p": null,
"transcript": "ENST00000502300.1",
"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": "ENST00000502300.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-482T>C",
"hgvs_p": null,
"transcript": "NM_032133.6",
"protein_id": "NP_115509.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": null,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323776.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032133.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-482T>C",
"hgvs_p": null,
"transcript": "ENST00000323776.11",
"protein_id": "ENSP00000323184.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": null,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032133.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323776.11"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-482T>C",
"hgvs_p": null,
"transcript": "NM_001366294.2",
"protein_id": "NP_001353223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 957,
"cds_start": null,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366294.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-482T>C",
"hgvs_p": null,
"transcript": "ENST00000879749.1",
"protein_id": "ENSP00000549808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879749.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-482T>C",
"hgvs_p": null,
"transcript": "ENST00000879750.1",
"protein_id": "ENSP00000549809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": null,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879750.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-353T>C",
"hgvs_p": null,
"transcript": "XM_017025205.2",
"protein_id": "XP_016880694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": null,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025205.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-353T>C",
"hgvs_p": null,
"transcript": "XM_047436905.1",
"protein_id": "XP_047292861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": null,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436905.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-353T>C",
"hgvs_p": null,
"transcript": "XM_005257726.3",
"protein_id": "XP_005257783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": null,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257726.3"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-353T>C",
"hgvs_p": null,
"transcript": "XM_047436906.1",
"protein_id": "XP_047292862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": null,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436906.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-353T>C",
"hgvs_p": null,
"transcript": "XM_047436907.1",
"protein_id": "XP_047292863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 995,
"cds_start": null,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436907.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-353T>C",
"hgvs_p": null,
"transcript": "XM_011525342.2",
"protein_id": "XP_011523644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": null,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525342.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "c.-353T>C",
"hgvs_p": null,
"transcript": "XM_011525343.2",
"protein_id": "XP_011523645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": null,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525343.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "n.-232T>C",
"hgvs_p": null,
"transcript": "ENST00000470609.5",
"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": "ENST00000470609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"hgvs_c": "n.-246T>C",
"hgvs_p": null,
"transcript": "NR_158785.2",
"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": "pseudogene",
"feature": "NR_158785.2"
}
],
"gene_symbol": "MYCBPAP",
"gene_hgnc_id": 19677,
"dbsnp": "rs73351675",
"frequency_reference_population": 0.5181698,
"hom_count_reference_population": 35388,
"allele_count_reference_population": 123512,
"gnomad_exomes_af": 0.457699,
"gnomad_genomes_af": 0.552495,
"gnomad_exomes_ac": 39504,
"gnomad_genomes_ac": 84008,
"gnomad_exomes_homalt": 9453,
"gnomad_genomes_homalt": 25935,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.448,
"phylop100way_prediction": "Benign",
"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": -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": "XM_047436908.1",
"gene_symbol": "MYCBPAP",
"hgnc_id": 19677,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.142+93T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000502300.1",
"gene_symbol": "ENSG00000249451",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.27+109A>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
}