← 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: 2-219420151-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219420151&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219420151,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001927.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"transcript": "NM_001927.4",
"protein_id": "NP_001918.3",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 470,
"cds_start": 635,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": "ENST00000373960.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"transcript": "ENST00000373960.4",
"protein_id": "ENSP00000363071.3",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 470,
"cds_start": 635,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": "NM_001927.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"transcript": "NM_001382712.1",
"protein_id": "NP_001369641.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 465,
"cds_start": 635,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"transcript": "NM_001382711.1",
"protein_id": "NP_001369640.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 463,
"cds_start": 635,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"transcript": "NM_001382710.1",
"protein_id": "NP_001369639.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 447,
"cds_start": 635,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"transcript": "NM_001382709.1",
"protein_id": "NP_001369638.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 326,
"cds_start": 635,
"cds_end": null,
"cds_length": 981,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln",
"transcript": "NM_001382708.1",
"protein_id": "NP_001369637.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 469,
"cds_start": 635,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2240,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "n.109G>A",
"hgvs_p": null,
"transcript": "ENST00000477226.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 1631,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "n.30G>A",
"hgvs_p": null,
"transcript": "ENST00000492726.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.496-374G>A",
"hgvs_p": null,
"transcript": "NM_001382713.1",
"protein_id": "NP_001369642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "n.-73G>A",
"hgvs_p": null,
"transcript": "ENST00000683013.1",
"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": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"dbsnp": "rs144261171",
"frequency_reference_population": 0.00024036376,
"hom_count_reference_population": 1,
"allele_count_reference_population": 388,
"gnomad_exomes_af": 0.000244205,
"gnomad_genomes_af": 0.000203503,
"gnomad_exomes_ac": 357,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49096184968948364,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.847,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6975,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.864,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3,BS1_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PP2",
"PP3",
"BS1_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001927.4",
"gene_symbol": "DES",
"hgnc_id": 2770,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212Gln"
}
],
"clinvar_disease": " Dominant, Kaeser type,Arrhythmogenic right ventricular cardiomyopathy,Cardiomyopathy,Cardiovascular phenotype,Desmin-related myofibrillar myopathy,Dilated cardiomyopathy 1I,Left ventricular noncompaction cardiomyopathy,Myofibrillar Myopathy,Neurogenic scapuloperoneal syndrome,See cases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:14 LB:1 B:1",
"phenotype_combined": "not specified|Left ventricular noncompaction cardiomyopathy|Desmin-related myofibrillar myopathy|Dilated cardiomyopathy 1I|Neurogenic scapuloperoneal syndrome, Kaeser type|Myofibrillar Myopathy, Dominant|not provided|Cardiomyopathy|Cardiovascular phenotype|See cases|Arrhythmogenic right ventricular cardiomyopathy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}