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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: 15-22873645-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=22873645&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 22873645,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014608.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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.3295C>G",
"hgvs_p": "p.Arg1099Gly",
"transcript": "NM_014608.6",
"protein_id": "NP_055423.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "ENST00000617928.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.3295C>G",
"hgvs_p": "p.Arg1099Gly",
"transcript": "ENST00000617928.5",
"protein_id": "ENSP00000481038.1",
"transcript_support_level": 1,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "NM_014608.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.3295C>G",
"hgvs_p": "p.Arg1099Gly",
"transcript": "ENST00000610365.4",
"protein_id": "ENSP00000478779.1",
"transcript_support_level": 1,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3486,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "ENST00000617556.4",
"protein_id": "ENSP00000480525.1",
"transcript_support_level": 1,
"aa_start": 668,
"aa_end": null,
"aa_length": 822,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2304,
"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.2442C>G",
"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": "R",
"aa_alt": "G",
"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.3397C>G",
"hgvs_p": "p.Arg1133Gly",
"transcript": "NM_001324119.2",
"protein_id": "NP_001311048.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3397,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.3295C>G",
"hgvs_p": "p.Arg1099Gly",
"transcript": "NM_001287810.4",
"protein_id": "NP_001274739.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.3295C>G",
"hgvs_p": "p.Arg1099Gly",
"transcript": "NM_001324120.2",
"protein_id": "NP_001311049.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3583,
"cdna_end": null,
"cdna_length": 7026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.3295C>G",
"hgvs_p": "p.Arg1099Gly",
"transcript": "NM_001324123.3",
"protein_id": "NP_001311052.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3295,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 6853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.3289C>G",
"hgvs_p": "p.Arg1097Gly",
"transcript": "ENST00000612288.2",
"protein_id": "ENSP00000479802.2",
"transcript_support_level": 3,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3289,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.3205C>G",
"hgvs_p": "p.Arg1069Gly",
"transcript": "NM_001324124.3",
"protein_id": "NP_001311053.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3293,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.3193C>G",
"hgvs_p": "p.Arg1065Gly",
"transcript": "NM_001324126.3",
"protein_id": "NP_001311055.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3193,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3281,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.2929C>G",
"hgvs_p": "p.Arg977Gly",
"transcript": "NM_001324125.3",
"protein_id": "NP_001311054.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.2002C>G",
"hgvs_p": "p.Arg668Gly",
"transcript": "NM_001033028.3",
"protein_id": "NP_001028200.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 822,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1615C>G",
"hgvs_p": "p.Arg539Gly",
"transcript": "NM_001324122.3",
"protein_id": "NP_001311051.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 693,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 3531,
"cdna_end": null,
"cdna_length": 6974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "ENST00000561263.2",
"protein_id": "ENSP00000453060.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 176,
"cds_start": 217,
"cds_end": null,
"cds_length": 531,
"cdna_start": 217,
"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.*36C>G",
"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": "rs768834889",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8704309463500977,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.8743,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.195,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014608.6",
"gene_symbol": "CYFIP1",
"hgnc_id": 13759,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3295C>G",
"hgvs_p": "p.Arg1099Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}