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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: 11-57659632-CAAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57659632&ref=CAAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 57659632,
"ref": "CAAG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_006831.3",
"consequences": [
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "NM_006831.3",
"protein_id": "NP_006822.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 425,
"cds_start": 159,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533682.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006831.3"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000533682.2",
"protein_id": "ENSP00000434995.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 425,
"cds_start": 159,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006831.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533682.2"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000525602.1",
"protein_id": "ENSP00000436066.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 425,
"cds_start": 159,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525602.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.192_194delGAA",
"hgvs_p": "p.Lys65del",
"transcript": "ENST00000529430.1",
"protein_id": "ENSP00000433406.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 436,
"cds_start": 192,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529430.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000681650.1",
"protein_id": "ENSP00000506714.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 425,
"cds_start": 159,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681650.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000859512.1",
"protein_id": "ENSP00000529571.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 425,
"cds_start": 159,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859512.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000859513.1",
"protein_id": "ENSP00000529572.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 425,
"cds_start": 159,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859513.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000927170.1",
"protein_id": "ENSP00000597229.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 425,
"cds_start": 159,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927170.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000927173.1",
"protein_id": "ENSP00000597232.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 425,
"cds_start": 159,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927173.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "NM_001142597.2",
"protein_id": "NP_001136069.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 361,
"cds_start": 159,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142597.2"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000302731.4",
"protein_id": "ENSP00000304704.4",
"transcript_support_level": 2,
"aa_start": 53,
"aa_end": null,
"aa_length": 361,
"cds_start": 159,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302731.4"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000927171.1",
"protein_id": "ENSP00000597230.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 341,
"cds_start": 159,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927171.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000927172.1",
"protein_id": "ENSP00000597231.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 285,
"cds_start": 159,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927172.1"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000529773.2",
"protein_id": "ENSP00000435287.2",
"transcript_support_level": 4,
"aa_start": 53,
"aa_end": null,
"aa_length": 210,
"cds_start": 159,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529773.2"
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del",
"transcript": "ENST00000533905.1",
"protein_id": "ENSP00000431744.1",
"transcript_support_level": 4,
"aa_start": 53,
"aa_end": null,
"aa_length": 131,
"cds_start": 159,
"cds_end": null,
"cds_length": 397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533905.1"
}
],
"gene_symbol": "CLP1",
"gene_hgnc_id": 16999,
"dbsnp": "rs758902215",
"frequency_reference_population": 0.000018587774,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000184692,
"gnomad_genomes_af": 0.0000197278,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 3,
"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": 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": 8.996,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006831.3",
"gene_symbol": "CLP1",
"hgnc_id": 16999,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.159_161delGAA",
"hgvs_p": "p.Lys54del"
}
],
"clinvar_disease": "Pontocerebellar hypoplasia type 10",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Pontocerebellar hypoplasia type 10",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}