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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: 10-12217365-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=12217365&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 12217365,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006023.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "NM_006023.3",
"protein_id": "NP_006014.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 336,
"cds_start": 338,
"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": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000281141.9",
"protein_id": "ENSP00000281141.4",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 336,
"cds_start": 338,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ala153Val",
"transcript": "ENST00000932716.1",
"protein_id": "ENSP00000602775.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 376,
"cds_start": 458,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ala146Val",
"transcript": "ENST00000932723.1",
"protein_id": "ENSP00000602782.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 369,
"cds_start": 437,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ala114Val",
"transcript": "ENST00000932726.1",
"protein_id": "ENSP00000602785.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 337,
"cds_start": 341,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000932718.1",
"protein_id": "ENSP00000602777.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 334,
"cds_start": 338,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.242C>T",
"hgvs_p": "p.Ala81Val",
"transcript": "ENST00000900298.1",
"protein_id": "ENSP00000570357.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 333,
"cds_start": 242,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ala102Val",
"transcript": "ENST00000932721.1",
"protein_id": "ENSP00000602780.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 325,
"cds_start": 305,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Ala89Val",
"transcript": "ENST00000900297.1",
"protein_id": "ENSP00000570356.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 312,
"cds_start": 266,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000378900.6",
"protein_id": "ENSP00000368178.2",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 295,
"cds_start": 338,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000932722.1",
"protein_id": "ENSP00000602781.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 280,
"cds_start": 170,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Ala57Val",
"transcript": "ENST00000932725.1",
"protein_id": "ENSP00000602784.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 279,
"cds_start": 170,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.242C>T",
"hgvs_p": "p.Ala81Val",
"transcript": "ENST00000932720.1",
"protein_id": "ENSP00000602779.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 263,
"cds_start": 242,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.242C>T",
"hgvs_p": "p.Ala81Val",
"transcript": "ENST00000442050.5",
"protein_id": "ENSP00000398724.1",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 182,
"cds_start": 242,
"cds_end": null,
"cds_length": 550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442050.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000429258.6",
"protein_id": "ENSP00000415806.2",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 156,
"cds_start": 338,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429258.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.242C>T",
"hgvs_p": "p.Ala81Val",
"transcript": "XM_005252638.5",
"protein_id": "XP_005252695.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 304,
"cds_start": 242,
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.238-68C>T",
"hgvs_p": null,
"transcript": "ENST00000932724.1",
"protein_id": "ENSP00000602783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"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": 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": 2,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "c.147-13583C>T",
"hgvs_p": null,
"transcript": "ENST00000932717.1",
"protein_id": "ENSP00000602776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": null,
"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": 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.237+7043C>T",
"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.237+7043C>T",
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "n.454C>T",
"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": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"hgvs_c": "n.-49C>T",
"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"
}
],
"gene_symbol": "CDC123",
"gene_hgnc_id": 16827,
"dbsnp": "rs752168458",
"frequency_reference_population": 0.0000055904025,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000411608,
"gnomad_genomes_af": 0.0000197104,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9743770360946655,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.859,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.389,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006023.3",
"gene_symbol": "CDC123",
"hgnc_id": 16827,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val"
}
],
"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
}