← Back to variant description
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: 18-3100423-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3100423&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3100423,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000356443.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.3579G>A",
"hgvs_p": "p.Thr1193Thr",
"transcript": "NM_003803.4",
"protein_id": "NP_003794.3",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1685,
"cds_start": 3579,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": "ENST00000356443.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.3579G>A",
"hgvs_p": "p.Thr1193Thr",
"transcript": "ENST00000356443.9",
"protein_id": "ENSP00000348821.4",
"transcript_support_level": 1,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1685,
"cds_start": 3579,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": "NM_003803.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Thr1097Thr",
"transcript": "ENST00000261606.11",
"protein_id": "ENSP00000261606.7",
"transcript_support_level": 1,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1589,
"cds_start": 3291,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 3366,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.3291G>A",
"hgvs_p": "p.Thr1097Thr",
"transcript": "NM_019856.2",
"protein_id": "NP_062830.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1589,
"cds_start": 3291,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.3702G>A",
"hgvs_p": "p.Thr1234Thr",
"transcript": "XM_047437909.1",
"protein_id": "XP_047293865.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1726,
"cds_start": 3702,
"cds_end": null,
"cds_length": 5181,
"cdna_start": 3882,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.3666G>A",
"hgvs_p": "p.Thr1222Thr",
"transcript": "XM_017026062.2",
"protein_id": "XP_016881551.2",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1714,
"cds_start": 3666,
"cds_end": null,
"cds_length": 5145,
"cdna_start": 3846,
"cdna_end": null,
"cdna_length": 5780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.3579G>A",
"hgvs_p": "p.Thr1193Thr",
"transcript": "XM_047437910.1",
"protein_id": "XP_047293866.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1685,
"cds_start": 3579,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 4985,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.3414G>A",
"hgvs_p": "p.Thr1138Thr",
"transcript": "XM_047437911.1",
"protein_id": "XP_047293867.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1630,
"cds_start": 3414,
"cds_end": null,
"cds_length": 4893,
"cdna_start": 3594,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"dbsnp": "rs575759850",
"frequency_reference_population": 0.0000880772,
"hom_count_reference_population": 0,
"allele_count_reference_population": 142,
"gnomad_exomes_af": 0.0000910978,
"gnomad_genomes_af": 0.0000591125,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"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": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.54,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000356443.9",
"gene_symbol": "MYOM1",
"hgnc_id": 7613,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3579G>A",
"hgvs_p": "p.Thr1193Thr"
}
],
"clinvar_disease": "Hypertrophic cardiomyopathy,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Hypertrophic cardiomyopathy|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}