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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: 11-124992618-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=124992618&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 124992618,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_025004.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Glu690Glu",
"transcript": "NM_025004.3",
"protein_id": "NP_079280.2",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 951,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344762.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025004.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Glu690Glu",
"transcript": "ENST00000344762.6",
"protein_id": "ENSP00000341684.5",
"transcript_support_level": 5,
"aa_start": 690,
"aa_end": null,
"aa_length": 951,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025004.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344762.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2190A>G",
"hgvs_p": "p.Glu730Glu",
"transcript": "ENST00000921762.1",
"protein_id": "ENSP00000591821.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 991,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921762.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Glu690Glu",
"transcript": "ENST00000529051.5",
"protein_id": "ENSP00000435403.1",
"transcript_support_level": 5,
"aa_start": 690,
"aa_end": null,
"aa_length": 962,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529051.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Glu690Glu",
"transcript": "ENST00000921765.1",
"protein_id": "ENSP00000591824.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 951,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921765.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1947A>G",
"hgvs_p": "p.Glu649Glu",
"transcript": "ENST00000921761.1",
"protein_id": "ENSP00000591820.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 910,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921761.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1947A>G",
"hgvs_p": "p.Glu649Glu",
"transcript": "ENST00000921764.1",
"protein_id": "ENSP00000591823.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 910,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921764.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.792A>G",
"hgvs_p": "p.Glu264Glu",
"transcript": "ENST00000921763.1",
"protein_id": "ENSP00000591822.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 525,
"cds_start": 792,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921763.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2190A>G",
"hgvs_p": "p.Glu730Glu",
"transcript": "XM_017018346.2",
"protein_id": "XP_016873835.1",
"transcript_support_level": null,
"aa_start": 730,
"aa_end": null,
"aa_length": 844,
"cds_start": 2190,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018346.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2100A>G",
"hgvs_p": "p.Glu700Glu",
"transcript": "XM_017018347.2",
"protein_id": "XP_016873836.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 814,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018347.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2043A>G",
"hgvs_p": "p.Glu681Glu",
"transcript": "XM_017018349.2",
"protein_id": "XP_016873838.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 795,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018349.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1947A>G",
"hgvs_p": "p.Glu649Glu",
"transcript": "XM_017018350.2",
"protein_id": "XP_016873839.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 763,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018350.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1923A>G",
"hgvs_p": "p.Glu641Glu",
"transcript": "XM_047427628.1",
"protein_id": "XP_047283584.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 755,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427628.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1839A>G",
"hgvs_p": "p.Glu613Glu",
"transcript": "XM_017018352.2",
"protein_id": "XP_016873841.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 727,
"cds_start": 1839,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018352.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1909-551A>G",
"hgvs_p": null,
"transcript": "ENST00000892371.1",
"protein_id": "ENSP00000562430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 874,
"cds_start": null,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2152-551A>G",
"hgvs_p": null,
"transcript": "XM_017018348.2",
"protein_id": "XP_016873837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 808,
"cds_start": null,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018348.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.2032-551A>G",
"hgvs_p": null,
"transcript": "XM_047427627.1",
"protein_id": "XP_047283583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": null,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427627.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1909-551A>G",
"hgvs_p": null,
"transcript": "XM_017018351.2",
"protein_id": "XP_016873840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 727,
"cds_start": null,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018351.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1908+4484A>G",
"hgvs_p": null,
"transcript": "XM_017018353.2",
"protein_id": "XP_016873842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": null,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018353.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"hgvs_c": "c.1761+4484A>G",
"hgvs_p": null,
"transcript": "XM_047427630.1",
"protein_id": "XP_047283586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427630.1"
}
],
"gene_symbol": "CCDC15",
"gene_hgnc_id": 25798,
"dbsnp": "rs6590113",
"frequency_reference_population": 0.21026193,
"hom_count_reference_population": 39007,
"allele_count_reference_population": 335221,
"gnomad_exomes_af": 0.204311,
"gnomad_genomes_af": 0.266699,
"gnomad_exomes_ac": 294662,
"gnomad_genomes_ac": 40559,
"gnomad_exomes_homalt": 32595,
"gnomad_genomes_homalt": 6412,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.026,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_025004.3",
"gene_symbol": "CCDC15",
"hgnc_id": 25798,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Glu690Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}