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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: 18-3067301-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3067301&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3067301,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003803.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.5019C>A",
"hgvs_p": "p.Ala1673Ala",
"transcript": "NM_003803.4",
"protein_id": "NP_003794.3",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1685,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 5213,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": "ENST00000356443.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.5019C>A",
"hgvs_p": "p.Ala1673Ala",
"transcript": "ENST00000356443.9",
"protein_id": "ENSP00000348821.4",
"transcript_support_level": 1,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1685,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 5213,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": "NM_003803.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.4731C>A",
"hgvs_p": "p.Ala1577Ala",
"transcript": "ENST00000261606.11",
"protein_id": "ENSP00000261606.7",
"transcript_support_level": 1,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4731,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 4806,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.4731C>A",
"hgvs_p": "p.Ala1577Ala",
"transcript": "NM_019856.2",
"protein_id": "NP_062830.1",
"transcript_support_level": null,
"aa_start": 1577,
"aa_end": null,
"aa_length": 1589,
"cds_start": 4731,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 4925,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.5142C>A",
"hgvs_p": "p.Ala1714Ala",
"transcript": "XM_047437909.1",
"protein_id": "XP_047293865.1",
"transcript_support_level": null,
"aa_start": 1714,
"aa_end": null,
"aa_length": 1726,
"cds_start": 5142,
"cds_end": null,
"cds_length": 5181,
"cdna_start": 5322,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.5106C>A",
"hgvs_p": "p.Ala1702Ala",
"transcript": "XM_017026062.2",
"protein_id": "XP_016881551.2",
"transcript_support_level": null,
"aa_start": 1702,
"aa_end": null,
"aa_length": 1714,
"cds_start": 5106,
"cds_end": null,
"cds_length": 5145,
"cdna_start": 5286,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.5019C>A",
"hgvs_p": "p.Ala1673Ala",
"transcript": "XM_047437910.1",
"protein_id": "XP_047293866.1",
"transcript_support_level": null,
"aa_start": 1673,
"aa_end": null,
"aa_length": 1685,
"cds_start": 5019,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 6425,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.4854C>A",
"hgvs_p": "p.Ala1618Ala",
"transcript": "XM_047437911.1",
"protein_id": "XP_047293867.1",
"transcript_support_level": null,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4854,
"cds_end": null,
"cds_length": 4893,
"cdna_start": 5034,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "n.509C>A",
"hgvs_p": null,
"transcript": "ENST00000581804.1",
"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": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"dbsnp": "rs199980922",
"frequency_reference_population": 0.000006570907,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657091,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.647,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003803.4",
"gene_symbol": "MYOM1",
"hgnc_id": 7613,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5019C>A",
"hgvs_p": "p.Ala1673Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}