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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: 19-50293257-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50293257&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50293257,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000642316.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.5281C>A",
"hgvs_p": "p.Arg1761Arg",
"transcript": "NM_001145809.2",
"protein_id": "NP_001139281.1",
"transcript_support_level": null,
"aa_start": 1761,
"aa_end": null,
"aa_length": 2036,
"cds_start": 5281,
"cds_end": null,
"cds_length": 6111,
"cdna_start": 5334,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": "ENST00000642316.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.5281C>A",
"hgvs_p": "p.Arg1761Arg",
"transcript": "ENST00000642316.2",
"protein_id": "ENSP00000493594.1",
"transcript_support_level": null,
"aa_start": 1761,
"aa_end": null,
"aa_length": 2036,
"cds_start": 5281,
"cds_end": null,
"cds_length": 6111,
"cdna_start": 5334,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": "NM_001145809.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.5182C>A",
"hgvs_p": "p.Arg1728Arg",
"transcript": "NM_001077186.2",
"protein_id": "NP_001070654.1",
"transcript_support_level": null,
"aa_start": 1728,
"aa_end": null,
"aa_length": 2003,
"cds_start": 5182,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 5235,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.5182C>A",
"hgvs_p": "p.Arg1728Arg",
"transcript": "ENST00000425460.6",
"protein_id": "ENSP00000407879.1",
"transcript_support_level": 5,
"aa_start": 1728,
"aa_end": null,
"aa_length": 2003,
"cds_start": 5182,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 5235,
"cdna_end": null,
"cdna_length": 6815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.5182C>A",
"hgvs_p": "p.Arg1728Arg",
"transcript": "ENST00000598205.5",
"protein_id": "ENSP00000472543.1",
"transcript_support_level": 5,
"aa_start": 1728,
"aa_end": null,
"aa_length": 2003,
"cds_start": 5182,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 5307,
"cdna_end": null,
"cdna_length": 6137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.5158C>A",
"hgvs_p": "p.Arg1720Arg",
"transcript": "NM_024729.4",
"protein_id": "NP_079005.3",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1995,
"cds_start": 5158,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 5211,
"cdna_end": null,
"cdna_length": 6791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.5158C>A",
"hgvs_p": "p.Arg1720Arg",
"transcript": "ENST00000376970.6",
"protein_id": "ENSP00000366169.3",
"transcript_support_level": 5,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1995,
"cds_start": 5158,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 5205,
"cdna_end": null,
"cdna_length": 6787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "c.5158C>A",
"hgvs_p": "p.Arg1720Arg",
"transcript": "ENST00000596571.5",
"protein_id": "ENSP00000472819.1",
"transcript_support_level": 5,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1995,
"cds_start": 5158,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 5158,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"hgvs_c": "n.2460C>A",
"hgvs_p": null,
"transcript": "ENST00000595016.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 4039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH14",
"gene_hgnc_id": 23212,
"dbsnp": "rs116035034",
"frequency_reference_population": 0.00488703,
"hom_count_reference_population": 362,
"allele_count_reference_population": 7862,
"gnomad_exomes_af": 0.00273387,
"gnomad_genomes_af": 0.0254921,
"gnomad_exomes_ac": 3982,
"gnomad_genomes_ac": 3880,
"gnomad_exomes_homalt": 156,
"gnomad_genomes_homalt": 206,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.078,
"phylop100way_prediction": "Benign",
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000642316.2",
"gene_symbol": "MYH14",
"hgnc_id": 23212,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5281C>A",
"hgvs_p": "p.Arg1761Arg"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 4A,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Autosomal dominant nonsyndromic hearing loss 4A|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}