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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: 15-22873638-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=22873638&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 22873638,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014608.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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.3302G>T",
"hgvs_p": "p.Arg1101Leu",
"transcript": "NM_014608.6",
"protein_id": "NP_055423.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3390,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "ENST00000617928.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.3302G>T",
"hgvs_p": "p.Arg1101Leu",
"transcript": "ENST00000617928.5",
"protein_id": "ENSP00000481038.1",
"transcript_support_level": 1,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3390,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": "NM_014608.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.3302G>T",
"hgvs_p": "p.Arg1101Leu",
"transcript": "ENST00000610365.4",
"protein_id": "ENSP00000478779.1",
"transcript_support_level": 1,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.2009G>T",
"hgvs_p": "p.Arg670Leu",
"transcript": "ENST00000617556.4",
"protein_id": "ENSP00000480525.1",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 822,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2311,
"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.2449G>T",
"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": "L",
"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.3404G>T",
"hgvs_p": "p.Arg1135Leu",
"transcript": "NM_001324119.2",
"protein_id": "NP_001311048.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3404,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 3411,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.3302G>T",
"hgvs_p": "p.Arg1101Leu",
"transcript": "NM_001287810.4",
"protein_id": "NP_001274739.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3509,
"cdna_end": null,
"cdna_length": 6945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.3302G>T",
"hgvs_p": "p.Arg1101Leu",
"transcript": "NM_001324120.2",
"protein_id": "NP_001311049.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 7026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.3302G>T",
"hgvs_p": "p.Arg1101Leu",
"transcript": "NM_001324123.3",
"protein_id": "NP_001311052.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3302,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3417,
"cdna_end": null,
"cdna_length": 6853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.3296G>T",
"hgvs_p": "p.Arg1099Leu",
"transcript": "ENST00000612288.2",
"protein_id": "ENSP00000479802.2",
"transcript_support_level": 3,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3296,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.3212G>T",
"hgvs_p": "p.Arg1071Leu",
"transcript": "NM_001324124.3",
"protein_id": "NP_001311053.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3212,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.3200G>T",
"hgvs_p": "p.Arg1067Leu",
"transcript": "NM_001324126.3",
"protein_id": "NP_001311055.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3200,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 3288,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.2936G>T",
"hgvs_p": "p.Arg979Leu",
"transcript": "NM_001324125.3",
"protein_id": "NP_001311054.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2936,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3099,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.2009G>T",
"hgvs_p": "p.Arg670Leu",
"transcript": "NM_001033028.3",
"protein_id": "NP_001028200.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 822,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.1622G>T",
"hgvs_p": "p.Arg541Leu",
"transcript": "NM_001324122.3",
"protein_id": "NP_001311051.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 693,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 3538,
"cdna_end": null,
"cdna_length": 6974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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.224G>T",
"hgvs_p": "p.Arg75Leu",
"transcript": "ENST00000561263.2",
"protein_id": "ENSP00000453060.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 176,
"cds_start": 224,
"cds_end": null,
"cds_length": 531,
"cdna_start": 224,
"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.*43G>T",
"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": "rs144654046",
"frequency_reference_population": 0.000027878657,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000246258,
"gnomad_genomes_af": 0.0000591117,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8285102844238281,
"computational_prediction_selected": "Pathogenic",
"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": 0.3025,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.126,
"phylop100way_prediction": "Uncertain_significance",
"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,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014608.6",
"gene_symbol": "CYFIP1",
"hgnc_id": 13759,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3302G>T",
"hgvs_p": "p.Arg1101Leu"
}
],
"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
}