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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: 6-81752010-A-ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=81752010&ref=A&alt=ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 81752010,
"ref": "A",
"alt": "ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_017633.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "GGDFGGGDFGGGDFGGGDFGGGDFGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly44_Gly45insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly",
"transcript": "NM_017633.3",
"protein_id": "NP_060103.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 442,
"cds_start": 131,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320172.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017633.3"
},
{
"aa_ref": "G",
"aa_alt": "GGDFGGGDFGGGDFGGGDFGGGDFGG",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly44_Gly45insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly",
"transcript": "ENST00000320172.11",
"protein_id": "ENSP00000318298.6",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 442,
"cds_start": 131,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017633.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320172.11"
},
{
"aa_ref": "G",
"aa_alt": "GGDFGGGDFGGGDFGGGDFGGGDFGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.374_375insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly125_Gly126insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly",
"transcript": "ENST00000369756.3",
"protein_id": "ENSP00000358771.3",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 523,
"cds_start": 374,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369756.3"
},
{
"aa_ref": "G",
"aa_alt": "GGDFGGGDFGGGDFGGGDFGGGDFGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.188_189insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly63_Gly64insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly",
"transcript": "ENST00000369754.7",
"protein_id": "ENSP00000358769.3",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 461,
"cds_start": 188,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369754.7"
},
{
"aa_ref": "G",
"aa_alt": "GGDFGGGDFGGGDFGGGDFGGGDFGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly44_Gly45insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly",
"transcript": "ENST00000874672.1",
"protein_id": "ENSP00000544731.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 442,
"cds_start": 131,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874672.1"
},
{
"aa_ref": "G",
"aa_alt": "GGDFGGGDFGGGDFGGGDFGGGDFGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly44_Gly45insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly",
"transcript": "ENST00000874673.1",
"protein_id": "ENSP00000544732.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 442,
"cds_start": 131,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874673.1"
},
{
"aa_ref": "G",
"aa_alt": "GGDFGGGDFGGGDFGGGDFGGGDFGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly44_Gly45insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly",
"transcript": "ENST00000874674.1",
"protein_id": "ENSP00000544733.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 442,
"cds_start": 131,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874674.1"
},
{
"aa_ref": "G",
"aa_alt": "GGDFGGGDFGGGDFGGGDFGGGDFGG",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly44_Gly45insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly",
"transcript": "ENST00000959717.1",
"protein_id": "ENSP00000629776.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 442,
"cds_start": 131,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959717.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"hgvs_c": "c.-200_-199insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": null,
"transcript": "ENST00000412306.1",
"protein_id": "ENSP00000401884.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412306.1"
}
],
"gene_symbol": "TENT5A",
"gene_hgnc_id": 18345,
"dbsnp": "rs754008809",
"frequency_reference_population": 0.000007161477,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0.0000116477,
"gnomad_genomes_af": 0.00000716148,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.042,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017633.3",
"gene_symbol": "TENT5A",
"hgnc_id": 18345,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGGCGGCGACTTCGGCGG",
"hgvs_p": "p.Gly44_Gly45insGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}