← 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: 14-23422269-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23422269&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23422269,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000257.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.3156G>A",
"hgvs_p": "p.Lys1052Lys",
"transcript": "NM_000257.4",
"protein_id": "NP_000248.2",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3156,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": "ENST00000355349.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.3156G>A",
"hgvs_p": "p.Lys1052Lys",
"transcript": "ENST00000355349.4",
"protein_id": "ENSP00000347507.3",
"transcript_support_level": 1,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3156,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": "NM_000257.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.3156G>A",
"hgvs_p": "p.Lys1052Lys",
"transcript": "ENST00000713768.1",
"protein_id": "ENSP00000519070.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1944,
"cds_start": 3156,
"cds_end": null,
"cds_length": 5835,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.3156G>A",
"hgvs_p": "p.Lys1052Lys",
"transcript": "NM_001407004.1",
"protein_id": "NP_001393933.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3156,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 3205,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"hgvs_c": "c.3156G>A",
"hgvs_p": "p.Lys1052Lys",
"transcript": "ENST00000713769.1",
"protein_id": "ENSP00000519071.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3156,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 3205,
"cdna_end": null,
"cdna_length": 5971,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294572",
"gene_hgnc_id": null,
"hgvs_c": "n.152C>T",
"hgvs_p": null,
"transcript": "ENST00000724465.1",
"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": 428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH7",
"gene_hgnc_id": 7577,
"dbsnp": "rs138294643",
"frequency_reference_population": 0.00010841579,
"hom_count_reference_population": 1,
"allele_count_reference_population": 175,
"gnomad_exomes_af": 0.0000560938,
"gnomad_genomes_af": 0.000610557,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 93,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.27000001072883606,
"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": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.292,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000257.4",
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3156G>A",
"hgvs_p": "p.Lys1052Lys"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000724465.1",
"gene_symbol": "ENSG00000294572",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.152C>T",
"hgvs_p": null
}
],
"clinvar_disease": " Dominant,Cardiomyopathy,Cardiovascular phenotype,Dilated Cardiomyopathy,Hypertrophic cardiomyopathy,Left ventricular noncompaction cardiomyopathy,MYH7-related disorder,MYH7-related skeletal myopathy,Myosin storage myopathy,Scapuloperoneal myopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:10 B:5",
"phenotype_combined": "not specified|MYH7-related skeletal myopathy|Hypertrophic cardiomyopathy|Scapuloperoneal myopathy|Left ventricular noncompaction cardiomyopathy|Dilated Cardiomyopathy, Dominant|Cardiovascular phenotype|Cardiomyopathy|not provided|MYH7-related disorder|Myosin storage myopathy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}