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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: 18-3189039-TTTAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3189039&ref=TTTAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3189039,
"ref": "TTTAA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000356443.9",
"consequences": [
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.476_479delTTAA",
"hgvs_p": "p.Ile159fs",
"transcript": "NM_003803.4",
"protein_id": "NP_003794.3",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1685,
"cds_start": 476,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": "ENST00000356443.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.476_479delTTAA",
"hgvs_p": "p.Ile159fs",
"transcript": "ENST00000356443.9",
"protein_id": "ENSP00000348821.4",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 1685,
"cds_start": 476,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": "NM_003803.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.476_479delTTAA",
"hgvs_p": "p.Ile159fs",
"transcript": "ENST00000261606.11",
"protein_id": "ENSP00000261606.7",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 1589,
"cds_start": 476,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.476_479delTTAA",
"hgvs_p": "p.Ile159fs",
"transcript": "NM_019856.2",
"protein_id": "NP_062830.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1589,
"cds_start": 476,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.599_602delTTAA",
"hgvs_p": "p.Ile200fs",
"transcript": "XM_047437909.1",
"protein_id": "XP_047293865.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1726,
"cds_start": 599,
"cds_end": null,
"cds_length": 5181,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.599_602delTTAA",
"hgvs_p": "p.Ile200fs",
"transcript": "XM_017026062.2",
"protein_id": "XP_016881551.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1714,
"cds_start": 599,
"cds_end": null,
"cds_length": 5145,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.476_479delTTAA",
"hgvs_p": "p.Ile159fs",
"transcript": "XM_047437910.1",
"protein_id": "XP_047293866.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1685,
"cds_start": 476,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "IK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.599_602delTTAA",
"hgvs_p": "p.Ile200fs",
"transcript": "XM_047437911.1",
"protein_id": "XP_047293867.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1630,
"cds_start": 599,
"cds_end": null,
"cds_length": 4893,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "n.779_782delTTAA",
"hgvs_p": null,
"transcript": "XR_935071.3",
"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": 3302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"dbsnp": "rs876657920",
"frequency_reference_population": 0.0000013683897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136839,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"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": 5.839,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000356443.9",
"gene_symbol": "MYOM1",
"hgnc_id": 7613,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.476_479delTTAA",
"hgvs_p": "p.Ile159fs"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}