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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: 15-22873573-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=22873573&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 22873573,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014608.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Glu1123Lys",
"transcript": "NM_014608.6",
"protein_id": "NP_055423.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3455,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "ENST00000617928.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Glu1123Lys",
"transcript": "ENST00000617928.5",
"protein_id": "ENSP00000481038.1",
"transcript_support_level": 1,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3455,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "NM_014608.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Glu1123Lys",
"transcript": "ENST00000610365.4",
"protein_id": "ENSP00000478779.1",
"transcript_support_level": 1,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3558,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Glu692Lys",
"transcript": "ENST00000617556.4",
"protein_id": "ENSP00000480525.1",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 822,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 5674,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "n.2514G>A",
"hgvs_p": null,
"transcript": "ENST00000619348.4",
"protein_id": null,
"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": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3469G>A",
"hgvs_p": "p.Glu1157Lys",
"transcript": "NM_001324119.2",
"protein_id": "NP_001311048.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Glu1123Lys",
"transcript": "NM_001287810.4",
"protein_id": "NP_001274739.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3574,
"cdna_end": null,
"cdna_length": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Glu1123Lys",
"transcript": "NM_001324120.2",
"protein_id": "NP_001311049.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 7026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Glu1123Lys",
"transcript": "NM_001324123.3",
"protein_id": "NP_001311052.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3367,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 6853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3361G>A",
"hgvs_p": "p.Glu1121Lys",
"transcript": "ENST00000612288.2",
"protein_id": "ENSP00000479802.2",
"transcript_support_level": 3,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3277G>A",
"hgvs_p": "p.Glu1093Lys",
"transcript": "NM_001324124.3",
"protein_id": "NP_001311053.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3277,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3265G>A",
"hgvs_p": "p.Glu1089Lys",
"transcript": "NM_001324126.3",
"protein_id": "NP_001311055.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3265,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3001G>A",
"hgvs_p": "p.Glu1001Lys",
"transcript": "NM_001324125.3",
"protein_id": "NP_001311054.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3164,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Glu692Lys",
"transcript": "NM_001033028.3",
"protein_id": "NP_001028200.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 822,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Glu563Lys",
"transcript": "NM_001324122.3",
"protein_id": "NP_001311051.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 693,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 3603,
"cdna_end": null,
"cdna_length": 6974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.289G>A",
"hgvs_p": "p.Glu97Lys",
"transcript": "ENST00000561263.2",
"protein_id": "ENSP00000453060.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 176,
"cds_start": 289,
"cds_end": null,
"cds_length": 531,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "n.*108G>A",
"hgvs_p": null,
"transcript": "ENST00000557890.1",
"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": 408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"dbsnp": "rs748203521",
"frequency_reference_population": 0.0000068143268,
"hom_count_reference_population": 1,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000478837,
"gnomad_genomes_af": 0.0000262515,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.717458963394165,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.7184,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.858,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014608.6",
"gene_symbol": "CYFIP1",
"hgnc_id": 13759,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3367G>A",
"hgvs_p": "p.Glu1123Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}