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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: 10-12238469-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=12238469&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 12238469,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006023.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.701T>C",
"hgvs_p": "p.Ile234Thr",
"transcript": "NM_006023.3",
"protein_id": "NP_006014.2",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 336,
"cds_start": 701,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281141.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006023.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.701T>C",
"hgvs_p": "p.Ile234Thr",
"transcript": "ENST00000281141.9",
"protein_id": "ENSP00000281141.4",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 336,
"cds_start": 701,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006023.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281141.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.821T>C",
"hgvs_p": "p.Ile274Thr",
"transcript": "ENST00000932716.1",
"protein_id": "ENSP00000602775.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 376,
"cds_start": 821,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932716.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.800T>C",
"hgvs_p": "p.Ile267Thr",
"transcript": "ENST00000932723.1",
"protein_id": "ENSP00000602782.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 369,
"cds_start": 800,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932723.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.704T>C",
"hgvs_p": "p.Ile235Thr",
"transcript": "ENST00000932726.1",
"protein_id": "ENSP00000602785.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 337,
"cds_start": 704,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932726.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.701T>C",
"hgvs_p": "p.Ile234Thr",
"transcript": "ENST00000932718.1",
"protein_id": "ENSP00000602777.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 334,
"cds_start": 701,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932718.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.692T>C",
"hgvs_p": "p.Ile231Thr",
"transcript": "ENST00000900298.1",
"protein_id": "ENSP00000570357.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900298.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.668T>C",
"hgvs_p": "p.Ile223Thr",
"transcript": "ENST00000932721.1",
"protein_id": "ENSP00000602780.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 325,
"cds_start": 668,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932721.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.629T>C",
"hgvs_p": "p.Ile210Thr",
"transcript": "ENST00000900297.1",
"protein_id": "ENSP00000570356.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 312,
"cds_start": 629,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900297.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Ile193Thr",
"transcript": "ENST00000378900.6",
"protein_id": "ENSP00000368178.2",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 295,
"cds_start": 578,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378900.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.533T>C",
"hgvs_p": "p.Ile178Thr",
"transcript": "ENST00000932722.1",
"protein_id": "ENSP00000602781.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 280,
"cds_start": 533,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932722.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.533T>C",
"hgvs_p": "p.Ile178Thr",
"transcript": "ENST00000932724.1",
"protein_id": "ENSP00000602783.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 280,
"cds_start": 533,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932724.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.533T>C",
"hgvs_p": "p.Ile178Thr",
"transcript": "ENST00000932725.1",
"protein_id": "ENSP00000602784.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 279,
"cds_start": 533,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932725.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.482T>C",
"hgvs_p": "p.Ile161Thr",
"transcript": "ENST00000932720.1",
"protein_id": "ENSP00000602779.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 263,
"cds_start": 482,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932720.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Ile136Thr",
"transcript": "ENST00000932717.1",
"protein_id": "ENSP00000602776.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 238,
"cds_start": 407,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932717.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Ile87Thr",
"transcript": "ENST00000440613.1",
"protein_id": "ENSP00000391851.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 143,
"cds_start": 260,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440613.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.605T>C",
"hgvs_p": "p.Ile202Thr",
"transcript": "XM_005252638.5",
"protein_id": "XP_005252695.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 304,
"cds_start": 605,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252638.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.238-7680T>C",
"hgvs_p": null,
"transcript": "ENST00000900296.1",
"protein_id": "ENSP00000570355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900296.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.238-11112T>C",
"hgvs_p": null,
"transcript": "ENST00000932719.1",
"protein_id": "ENSP00000602778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "n.817T>C",
"hgvs_p": null,
"transcript": "ENST00000455773.7",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000455773.7"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "n.388T>C",
"hgvs_p": null,
"transcript": "ENST00000498747.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000498747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228302",
"gene_hgnc_id": null,
"hgvs_c": "n.141+8063A>G",
"hgvs_p": null,
"transcript": "ENST00000758908.1",
"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": "ENST00000758908.1"
}
],
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"dbsnp": "rs373454189",
"frequency_reference_population": 0.00013933572,
"hom_count_reference_population": 1,
"allele_count_reference_population": 224,
"gnomad_exomes_af": 0.000131233,
"gnomad_genomes_af": 0.000216814,
"gnomad_exomes_ac": 191,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20798912644386292,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.287,
"revel_prediction": "Benign",
"alphamissense_score": 0.1647,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.547,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006023.3",
"gene_symbol": "CDC123",
"hgnc_id": 16827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.701T>C",
"hgvs_p": "p.Ile234Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000758908.1",
"gene_symbol": "ENSG00000228302",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.141+8063A>G",
"hgvs_p": null
}
],
"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
}