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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: X-49248262-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49248262&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CCDC22",
"hgnc_id": 28909,
"hgvs_c": "c.1164C>T",
"hgvs_p": "p.Arg388Arg",
"inheritance_mode": "XL,AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_014008.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 159,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "X",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6800000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1164,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014008.5",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1164C>T",
"hgvs_p": "p.Arg388Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376227.4",
"protein_coding": true,
"protein_id": "NP_054727.1",
"strand": true,
"transcript": "NM_014008.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1164,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000376227.4",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1164C>T",
"hgvs_p": "p.Arg388Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014008.5",
"protein_coding": true,
"protein_id": "ENSP00000365401.3",
"strand": true,
"transcript": "ENST00000376227.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1188,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960401.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1188C>T",
"hgvs_p": "p.Arg396Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630460.1",
"strand": true,
"transcript": "ENST00000960401.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1182,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904959.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1182C>T",
"hgvs_p": "p.Arg394Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575018.1",
"strand": true,
"transcript": "ENST00000904959.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1164,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000933907.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1164C>T",
"hgvs_p": "p.Arg388Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603966.1",
"strand": true,
"transcript": "ENST00000933907.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1161,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000933906.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1161C>T",
"hgvs_p": "p.Arg387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603965.1",
"strand": true,
"transcript": "ENST00000933906.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1179,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000933908.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1179C>T",
"hgvs_p": "p.Arg393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603967.1",
"strand": true,
"transcript": "ENST00000933908.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1161,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904953.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1161C>T",
"hgvs_p": "p.Arg387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575012.1",
"strand": true,
"transcript": "ENST00000904953.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1161,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960400.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1161C>T",
"hgvs_p": "p.Arg387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630459.1",
"strand": true,
"transcript": "ENST00000960400.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1161,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960404.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1161C>T",
"hgvs_p": "p.Arg387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630463.1",
"strand": true,
"transcript": "ENST00000960404.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1146,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904954.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1146C>T",
"hgvs_p": "p.Arg382Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575013.1",
"strand": true,
"transcript": "ENST00000904954.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 620,
"aa_ref": "R",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1143,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960402.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1143C>T",
"hgvs_p": "p.Arg381Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630461.1",
"strand": true,
"transcript": "ENST00000960402.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1164,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904955.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1164C>T",
"hgvs_p": "p.Arg388Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575014.1",
"strand": true,
"transcript": "ENST00000904955.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1125,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904958.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1125C>T",
"hgvs_p": "p.Arg375Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575017.1",
"strand": true,
"transcript": "ENST00000904958.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1101,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904956.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1101C>T",
"hgvs_p": "p.Arg367Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575015.1",
"strand": true,
"transcript": "ENST00000904956.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1098,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904957.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1098C>T",
"hgvs_p": "p.Arg366Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575016.1",
"strand": true,
"transcript": "ENST00000904957.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 551,
"aa_ref": "R",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1656,
"cds_start": 936,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000960403.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Arg312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630462.1",
"strand": true,
"transcript": "ENST00000960403.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1161,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005272599.5",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1161C>T",
"hgvs_p": "p.Arg387Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272656.1",
"strand": true,
"transcript": "XM_005272599.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 587,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": null,
"cds_end": null,
"cds_length": 1764,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933905.1",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "c.1093-145C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603964.1",
"strand": true,
"transcript": "ENST00000933905.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1481,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XR_430506.4",
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"hgvs_c": "n.1327C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_430506.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs184896758",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00013667237,
"gene_hgnc_id": 28909,
"gene_symbol": "CCDC22",
"gnomad_exomes_ac": 149,
"gnomad_exomes_af": 0.00014066,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000960846,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 34,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.279,
"pos": 49248262,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014008.5"
}
]
}