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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: 1-119076372-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119076372&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 119076372,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000235521.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.325delA",
"hgvs_p": "p.Ser109fs",
"transcript": "NM_015836.4",
"protein_id": "NP_056651.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 360,
"cds_start": 325,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": "ENST00000235521.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.325delA",
"hgvs_p": "p.Ser109fs",
"transcript": "ENST00000235521.5",
"protein_id": "ENSP00000235521.4",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 360,
"cds_start": 325,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": "NM_015836.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.325delA",
"hgvs_p": "p.Ser109fs",
"transcript": "ENST00000369426.9",
"protein_id": "ENSP00000358434.5",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 220,
"cds_start": 325,
"cds_end": null,
"cds_length": 663,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.256delA",
"hgvs_p": "p.Ser86fs",
"transcript": "NM_001378226.1",
"protein_id": "NP_001365155.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 337,
"cds_start": 256,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.256delA",
"hgvs_p": "p.Ser86fs",
"transcript": "NM_001378227.1",
"protein_id": "NP_001365156.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 337,
"cds_start": 256,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.43delA",
"hgvs_p": "p.Ser15fs",
"transcript": "NM_001378230.1",
"protein_id": "NP_001365159.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 266,
"cds_start": 43,
"cds_end": null,
"cds_length": 801,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.325delA",
"hgvs_p": "p.Ser109fs",
"transcript": "NM_201263.2",
"protein_id": "NP_957715.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 220,
"cds_start": 325,
"cds_end": null,
"cds_length": 663,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.325delA",
"hgvs_p": "p.Ser109fs",
"transcript": "NM_001378231.1",
"protein_id": "NP_001365160.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 192,
"cds_start": 325,
"cds_end": null,
"cds_length": 579,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.271delA",
"hgvs_p": "p.Ser91fs",
"transcript": "XM_005270350.4",
"protein_id": "XP_005270407.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 342,
"cds_start": 271,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.325delA",
"hgvs_p": "p.Ser109fs",
"transcript": "XM_017000038.2",
"protein_id": "XP_016855527.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 341,
"cds_start": 325,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.256delA",
"hgvs_p": "p.Ser86fs",
"transcript": "XM_024449826.2",
"protein_id": "XP_024305594.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 337,
"cds_start": 256,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.43delA",
"hgvs_p": "p.Ser15fs",
"transcript": "XM_024449860.2",
"protein_id": "XP_024305628.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 266,
"cds_start": 43,
"cds_end": null,
"cds_length": 801,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "n.335delA",
"hgvs_p": null,
"transcript": "ENST00000495746.5",
"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": 621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "n.437delA",
"hgvs_p": null,
"transcript": "ENST00000497402.1",
"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": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.177+148delA",
"hgvs_p": null,
"transcript": "NM_001378228.1",
"protein_id": "NP_001365157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": -4,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.91-30711delA",
"hgvs_p": null,
"transcript": "NM_001378229.1",
"protein_id": "NP_001365158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"hgvs_c": "c.177+148delA",
"hgvs_p": null,
"transcript": "XM_047429105.1",
"protein_id": "XP_047285061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": -4,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WARS2",
"gene_hgnc_id": 12730,
"dbsnp": "rs1253426801",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.88,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000235521.5",
"gene_symbol": "WARS2",
"hgnc_id": 12730,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.325delA",
"hgvs_p": "p.Ser109fs"
}
],
"clinvar_disease": " mitochondrial, with abnormal movements and lactic acidosis, with or without seizures,Neurodevelopmental disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}