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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: 22-19483988-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19483988&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19483988,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000263201.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "NM_003504.5",
"protein_id": "NP_003495.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 566,
"cds_start": 469,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": "ENST00000263201.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "ENST00000263201.7",
"protein_id": "ENSP00000263201.2",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 566,
"cds_start": 469,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": "NM_003504.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "NM_001178010.2",
"protein_id": "NP_001171481.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 598,
"cds_start": 469,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "ENST00000437685.6",
"protein_id": "ENSP00000405726.2",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 598,
"cds_start": 469,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"transcript": "NM_001369291.1",
"protein_id": "NP_001356220.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 554,
"cds_start": 433,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Arg111Cys",
"transcript": "NM_001178011.2",
"protein_id": "NP_001171482.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 520,
"cds_start": 331,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Arg111Cys",
"transcript": "ENST00000404724.7",
"protein_id": "ENSP00000384978.3",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 520,
"cds_start": 331,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "XM_047441534.1",
"protein_id": "XP_047297490.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 598,
"cds_start": 469,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "XM_047441531.1",
"protein_id": "XP_047297487.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 567,
"cds_start": 469,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "XM_047441532.1",
"protein_id": "XP_047297488.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 566,
"cds_start": 469,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Cys",
"transcript": "XM_011530416.2",
"protein_id": "XP_011528718.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 555,
"cds_start": 433,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Arg111Cys",
"transcript": "XM_011530417.4",
"protein_id": "XP_011528719.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 521,
"cds_start": 331,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Arg111Cys",
"transcript": "XM_011530418.4",
"protein_id": "XP_011528720.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 520,
"cds_start": 331,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys",
"transcript": "XM_047441533.1",
"protein_id": "XP_047297489.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 417,
"cds_start": 469,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "n.202C>T",
"hgvs_p": null,
"transcript": "ENST00000428937.1",
"protein_id": "ENSP00000388280.1",
"transcript_support_level": 5,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "n.*341C>T",
"hgvs_p": null,
"transcript": "ENST00000438587.6",
"protein_id": "ENSP00000397434.2",
"transcript_support_level": 4,
"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": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "n.537C>T",
"hgvs_p": null,
"transcript": "ENST00000483431.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "n.426C>T",
"hgvs_p": null,
"transcript": "ENST00000487669.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "n.331C>T",
"hgvs_p": null,
"transcript": "ENST00000672837.1",
"protein_id": "ENSP00000499976.1",
"transcript_support_level": null,
"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": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "n.518C>T",
"hgvs_p": null,
"transcript": "NR_161281.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "c.-36C>T",
"hgvs_p": null,
"transcript": "ENST00000407835.6",
"protein_id": "ENSP00000385240.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": -4,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "n.*341C>T",
"hgvs_p": null,
"transcript": "ENST00000438587.6",
"protein_id": "ENSP00000397434.2",
"transcript_support_level": 4,
"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": 1979,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"hgvs_c": "n.*115C>T",
"hgvs_p": null,
"transcript": "ENST00000491520.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDC45",
"gene_hgnc_id": 1739,
"dbsnp": "rs540217942",
"frequency_reference_population": 0.000065287706,
"hom_count_reference_population": 0,
"allele_count_reference_population": 105,
"gnomad_exomes_af": 0.0000618143,
"gnomad_genomes_af": 0.000098495,
"gnomad_exomes_ac": 90,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6287093758583069,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.336,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1782,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.695,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000263201.7",
"gene_symbol": "CDC45",
"hgnc_id": 1739,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Arg157Cys"
}
],
"clinvar_disease": "Meier-Gorlin syndrome 7,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Meier-Gorlin syndrome 7|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}