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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: 15-22870187-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=22870187&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 22870187,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_014608.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3603G>A",
"hgvs_p": "p.Leu1201Leu",
"transcript": "NM_014608.6",
"protein_id": "NP_055423.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3603,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "ENST00000617928.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3603G>A",
"hgvs_p": "p.Leu1201Leu",
"transcript": "ENST00000617928.5",
"protein_id": "ENSP00000481038.1",
"transcript_support_level": 1,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3603,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "NM_014608.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3603G>A",
"hgvs_p": "p.Leu1201Leu",
"transcript": "ENST00000610365.4",
"protein_id": "ENSP00000478779.1",
"transcript_support_level": 1,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3603,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3794,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.2310G>A",
"hgvs_p": "p.Leu770Leu",
"transcript": "ENST00000617556.4",
"protein_id": "ENSP00000480525.1",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 822,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2612,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "n.2750G>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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3705G>A",
"hgvs_p": "p.Leu1235Leu",
"transcript": "NM_001324119.2",
"protein_id": "NP_001311048.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3705,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3712,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3603G>A",
"hgvs_p": "p.Leu1201Leu",
"transcript": "NM_001287810.4",
"protein_id": "NP_001274739.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3603,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3810,
"cdna_end": null,
"cdna_length": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3603G>A",
"hgvs_p": "p.Leu1201Leu",
"transcript": "NM_001324120.2",
"protein_id": "NP_001311049.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3603,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3891,
"cdna_end": null,
"cdna_length": 7026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3603G>A",
"hgvs_p": "p.Leu1201Leu",
"transcript": "NM_001324123.3",
"protein_id": "NP_001311052.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3603,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3718,
"cdna_end": null,
"cdna_length": 6853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3597G>A",
"hgvs_p": "p.Leu1199Leu",
"transcript": "ENST00000612288.2",
"protein_id": "ENSP00000479802.2",
"transcript_support_level": 3,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3597,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3597,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3513G>A",
"hgvs_p": "p.Leu1171Leu",
"transcript": "NM_001324124.3",
"protein_id": "NP_001311053.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3513,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3601,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3501G>A",
"hgvs_p": "p.Leu1167Leu",
"transcript": "NM_001324126.3",
"protein_id": "NP_001311055.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3501,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3589,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.3237G>A",
"hgvs_p": "p.Leu1079Leu",
"transcript": "NM_001324125.3",
"protein_id": "NP_001311054.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1131,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3400,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.2310G>A",
"hgvs_p": "p.Leu770Leu",
"transcript": "NM_001033028.3",
"protein_id": "NP_001028200.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 822,
"cds_start": 2310,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"hgvs_c": "c.1923G>A",
"hgvs_p": "p.Leu641Leu",
"transcript": "NM_001324122.3",
"protein_id": "NP_001311051.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 693,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 3839,
"cdna_end": null,
"cdna_length": 6974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CYFIP1",
"gene_hgnc_id": 13759,
"dbsnp": "rs115512378",
"frequency_reference_population": 0.0019202064,
"hom_count_reference_population": 53,
"allele_count_reference_population": 3090,
"gnomad_exomes_af": 0.00117443,
"gnomad_genomes_af": 0.00905283,
"gnomad_exomes_ac": 1711,
"gnomad_genomes_ac": 1379,
"gnomad_exomes_homalt": 32,
"gnomad_genomes_homalt": 21,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25999999046325684,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.766,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 17,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014608.6",
"gene_symbol": "CYFIP1",
"hgnc_id": 13759,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3603G>A",
"hgvs_p": "p.Leu1201Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}