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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: 14-59505279-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=59505279&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 59505279,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001164399.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.2342C>A",
"hgvs_p": "p.Pro781Gln",
"transcript": "NM_001164399.2",
"protein_id": "NP_001157871.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 793,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "ENST00000537690.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.2342C>A",
"hgvs_p": "p.Pro781Gln",
"transcript": "ENST00000537690.7",
"protein_id": "ENSP00000453940.1",
"transcript_support_level": 5,
"aa_start": 781,
"aa_end": null,
"aa_length": 793,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": "NM_001164399.2",
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "n.2171G>T",
"hgvs_p": null,
"transcript": "ENST00000602482.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "NM_016475.5",
"protein_id": "NP_057559.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": "ENST00000616435.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "ENST00000616435.5",
"protein_id": "ENSP00000479775.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": "NM_016475.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "ENST00000356057.9",
"protein_id": "ENSP00000348351.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.2345C>A",
"hgvs_p": "p.Pro782Gln",
"transcript": "XM_011537120.4",
"protein_id": "XP_011535422.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 794,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 2594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.2123C>A",
"hgvs_p": "p.Pro708Gln",
"transcript": "XM_011537122.4",
"protein_id": "XP_011535424.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 720,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1970C>A",
"hgvs_p": "p.Pro657Gln",
"transcript": "XM_011537124.4",
"protein_id": "XP_011535426.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 669,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1793C>A",
"hgvs_p": "p.Pro598Gln",
"transcript": "XM_047431746.1",
"protein_id": "XP_047287702.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 610,
"cds_start": 1793,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "c.1793C>A",
"hgvs_p": "p.Pro598Gln",
"transcript": "XM_047431747.1",
"protein_id": "XP_047287703.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 610,
"cds_start": 1793,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"hgvs_c": "n.105C>A",
"hgvs_p": null,
"transcript": "ENST00000553317.1",
"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": 326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258782",
"gene_hgnc_id": null,
"hgvs_c": "n.503C>A",
"hgvs_p": null,
"transcript": "ENST00000554253.1",
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "NM_001284201.2",
"protein_id": "NP_001271130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "NM_001284202.2",
"protein_id": "NP_001271131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "NM_001098625.3",
"protein_id": "NP_001092095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "NM_001284203.2",
"protein_id": "NP_001271132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1424G>T",
"hgvs_p": null,
"transcript": "NM_001284204.2",
"protein_id": "NP_001271133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "XM_024449627.2",
"protein_id": "XP_024305395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JKAMP",
"gene_hgnc_id": 20184,
"hgvs_c": "c.*1207G>T",
"hgvs_p": null,
"transcript": "XM_047431467.1",
"protein_id": "XP_047287423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L3HYPDH",
"gene_hgnc_id": 20488,
"hgvs_c": "c.-96C>A",
"hgvs_p": null,
"transcript": "XM_024449462.2",
"protein_id": "XP_024305230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC175",
"gene_hgnc_id": 19847,
"dbsnp": "rs138609862",
"frequency_reference_population": 0.00034185406,
"hom_count_reference_population": 0,
"allele_count_reference_population": 516,
"gnomad_exomes_af": 0.0003522,
"gnomad_genomes_af": 0.000249619,
"gnomad_exomes_ac": 478,
"gnomad_genomes_ac": 38,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03286176919937134,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.1768,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.214,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001164399.2",
"gene_symbol": "CCDC175",
"hgnc_id": 19847,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2342C>A",
"hgvs_p": "p.Pro781Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_016475.5",
"gene_symbol": "JKAMP",
"hgnc_id": 20184,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1207G>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000554253.1",
"gene_symbol": "ENSG00000258782",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.503C>A",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_024449462.2",
"gene_symbol": "L3HYPDH",
"hgnc_id": 20488,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-96C>A",
"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
}