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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: 15-89628453-GGGCTGGCTCGTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89628453&ref=GGGCTGGCTCGTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89628453,
"ref": "GGGCTGGCTCGTC",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000394412.8",
"consequences": [
{
"aa_ref": "RRASP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3986_3997delGACGAGCCAGCC",
"hgvs_p": "p.Arg1329_Ser1332del",
"transcript": "NM_198525.3",
"protein_id": "NP_940927.2",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3986,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 4090,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": "ENST00000394412.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRASP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3986_3997delGACGAGCCAGCC",
"hgvs_p": "p.Arg1329_Ser1332del",
"transcript": "ENST00000394412.8",
"protein_id": "ENSP00000377934.3",
"transcript_support_level": 5,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3986,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 4090,
"cdna_end": null,
"cdna_length": 4567,
"mane_select": "NM_198525.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TICRR",
"gene_hgnc_id": 28704,
"hgvs_c": "n.*97-975_*97-964delGCTGGCTCGTCG",
"hgvs_p": null,
"transcript": "ENST00000561095.1",
"protein_id": "ENSP00000453922.1",
"transcript_support_level": 1,
"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": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRASP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.4109_4120delGACGAGCCAGCC",
"hgvs_p": "p.Arg1370_Ser1373del",
"transcript": "ENST00000696512.1",
"protein_id": "ENSP00000512678.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1384,
"cds_start": 4109,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4184,
"cdna_end": null,
"cdna_length": 4661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRASP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.4109_4120delGACGAGCCAGCC",
"hgvs_p": "p.Arg1370_Ser1373del",
"transcript": "XM_011521531.3",
"protein_id": "XP_011519833.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1384,
"cds_start": 4109,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4147,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRASP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.4103_4114delGACGAGCCAGCC",
"hgvs_p": "p.Arg1368_Ser1371del",
"transcript": "XM_047432477.1",
"protein_id": "XP_047288433.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1382,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 4141,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRASP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3983_3994delGACGAGCCAGCC",
"hgvs_p": "p.Arg1328_Ser1331del",
"transcript": "XM_047432478.1",
"protein_id": "XP_047288434.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3983,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 4087,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRASP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3983_3994delGACGAGCCAGCC",
"hgvs_p": "p.Arg1328_Ser1331del",
"transcript": "XM_047432479.1",
"protein_id": "XP_047288435.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3983,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 4087,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RRASP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3980_3991delGACGAGCCAGCC",
"hgvs_p": "p.Arg1327_Ser1330del",
"transcript": "XM_047432480.1",
"protein_id": "XP_047288436.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3980,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 4084,
"cdna_end": null,
"cdna_length": 4561,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "n.1660_1671delGACGAGCCAGCC",
"hgvs_p": null,
"transcript": "ENST00000677187.1",
"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": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "n.178+136_178+147delGACGAGCCAGCC",
"hgvs_p": null,
"transcript": "ENST00000558928.1",
"protein_id": "ENSP00000504283.1",
"transcript_support_level": 3,
"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": 527,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"hgvs_c": "c.3847+136_3847+147delGACGAGCCAGCC",
"hgvs_p": null,
"transcript": "XM_047432481.1",
"protein_id": "XP_047288437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1312,
"cds_start": -4,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF7",
"gene_hgnc_id": 30497,
"dbsnp": "rs780942335",
"frequency_reference_population": 0.0002602879,
"hom_count_reference_population": 0,
"allele_count_reference_population": 419,
"gnomad_exomes_af": 0.000267567,
"gnomad_genomes_af": 0.000190566,
"gnomad_exomes_ac": 390,
"gnomad_genomes_ac": 29,
"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": 5.344,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000394412.8",
"gene_symbol": "KIF7",
"hgnc_id": 30497,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3986_3997delGACGAGCCAGCC",
"hgvs_p": "p.Arg1329_Ser1332del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000561095.1",
"gene_symbol": "TICRR",
"hgnc_id": 28704,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*97-975_*97-964delGCTGGCTCGTCG",
"hgvs_p": null
}
],
"clinvar_disease": "Acrocallosal syndrome,Intellectual disability,Joubert syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Joubert syndrome|not provided|Acrocallosal syndrome|Intellectual disability",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}