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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: 2-219418786-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219418786&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219418786,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000373960.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "NM_001927.4",
"protein_id": "NP_001918.3",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 470,
"cds_start": 324,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": "ENST00000373960.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "ENST00000373960.4",
"protein_id": "ENSP00000363071.3",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 470,
"cds_start": 324,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": "NM_001927.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "NM_001382708.1",
"protein_id": "NP_001369637.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 469,
"cds_start": 324,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "NM_001382712.1",
"protein_id": "NP_001369641.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 465,
"cds_start": 324,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "NM_001382711.1",
"protein_id": "NP_001369640.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 463,
"cds_start": 324,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "NM_001382710.1",
"protein_id": "NP_001369639.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 447,
"cds_start": 324,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "NM_001382713.1",
"protein_id": "NP_001369642.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 380,
"cds_start": 324,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu",
"transcript": "NM_001382709.1",
"protein_id": "NP_001369638.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 326,
"cds_start": 324,
"cds_end": null,
"cds_length": 981,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DES",
"gene_hgnc_id": 2770,
"dbsnp": "rs138677215",
"frequency_reference_population": 0.0003062623,
"hom_count_reference_population": 4,
"allele_count_reference_population": 480,
"gnomad_exomes_af": 0.000151951,
"gnomad_genomes_af": 0.00173932,
"gnomad_exomes_ac": 215,
"gnomad_genomes_ac": 265,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.734,
"phylop100way_prediction": "Uncertain_significance",
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000373960.4",
"gene_symbol": "DES",
"hgnc_id": 2770,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.324G>A",
"hgvs_p": "p.Glu108Glu"
}
],
"clinvar_disease": "Cardiovascular phenotype,Desmin-related myofibrillar myopathy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:8",
"phenotype_combined": "not specified|Cardiovascular phenotype|not provided|Desmin-related myofibrillar myopathy",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}