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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-49248482-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49248482&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49248482,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014008.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr",
"transcript": "NM_014008.5",
"protein_id": "NP_054727.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 627,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014008.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr",
"transcript": "ENST00000376227.4",
"protein_id": "ENSP00000365401.3",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 627,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014008.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376227.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Ala438Thr",
"transcript": "ENST00000960401.1",
"protein_id": "ENSP00000630460.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 635,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960401.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Ala436Thr",
"transcript": "ENST00000904959.1",
"protein_id": "ENSP00000575018.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 633,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904959.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr",
"transcript": "ENST00000933907.1",
"protein_id": "ENSP00000603966.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 633,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933907.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr",
"transcript": "ENST00000933906.1",
"protein_id": "ENSP00000603965.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 632,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933906.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Ala435Thr",
"transcript": "ENST00000933908.1",
"protein_id": "ENSP00000603967.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 632,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933908.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr",
"transcript": "ENST00000904953.1",
"protein_id": "ENSP00000575012.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 626,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904953.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr",
"transcript": "ENST00000960400.1",
"protein_id": "ENSP00000630459.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 626,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960400.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr",
"transcript": "ENST00000960404.1",
"protein_id": "ENSP00000630463.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 626,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960404.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Ala424Thr",
"transcript": "ENST00000904954.1",
"protein_id": "ENSP00000575013.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 621,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904954.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000960402.1",
"protein_id": "ENSP00000630461.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 620,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960402.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr",
"transcript": "ENST00000904955.1",
"protein_id": "ENSP00000575014.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 619,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904955.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Ala417Thr",
"transcript": "ENST00000904958.1",
"protein_id": "ENSP00000575017.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 614,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904958.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "ENST00000904956.1",
"protein_id": "ENSP00000575015.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 606,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904956.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"transcript": "ENST00000904957.1",
"protein_id": "ENSP00000575016.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 605,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904957.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"transcript": "ENST00000933905.1",
"protein_id": "ENSP00000603964.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 587,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933905.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Ala354Thr",
"transcript": "ENST00000960403.1",
"protein_id": "ENSP00000630462.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 551,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960403.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Ala429Thr",
"transcript": "XM_005272599.5",
"protein_id": "XP_005272656.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 626,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272599.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"hgvs_c": "n.1451G>A",
"hgvs_p": null,
"transcript": "XR_430506.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_430506.4"
}
],
"gene_symbol": "CCDC22",
"gene_hgnc_id": 28909,
"dbsnp": "rs144632022",
"frequency_reference_population": 0.007651207,
"hom_count_reference_population": 2985,
"allele_count_reference_population": 9242,
"gnomad_exomes_af": 0.00782418,
"gnomad_genomes_af": 0.00595147,
"gnomad_exomes_ac": 8578,
"gnomad_genomes_ac": 664,
"gnomad_exomes_homalt": 22,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008079826831817627,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
"alphamissense_score": 0.0936,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.632,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014008.5",
"gene_symbol": "CCDC22",
"hgnc_id": 28909,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Ala430Thr"
}
],
"clinvar_disease": "Ritscher-Schinzel syndrome 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided|Ritscher-Schinzel syndrome 2",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}