← Back to variant description
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: 14-88871550-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88871550&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 88871550,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000380656.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Trp",
"transcript": "NM_144596.4",
"protein_id": "NP_653197.2",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 515,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": "ENST00000380656.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Trp",
"transcript": "ENST00000380656.7",
"protein_id": "ENSP00000370031.2",
"transcript_support_level": 2,
"aa_start": 351,
"aa_end": null,
"aa_length": 515,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": "NM_144596.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Trp",
"transcript": "ENST00000338104.10",
"protein_id": "ENSP00000337653.6",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 531,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000622513.4",
"protein_id": "ENSP00000482721.1",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 505,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 5270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Trp",
"transcript": "ENST00000346301.8",
"protein_id": "ENSP00000298324.6",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 475,
"cds_start": 931,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Trp",
"transcript": "ENST00000354441.10",
"protein_id": "ENSP00000346427.6",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 250,
"cds_start": 256,
"cds_end": null,
"cds_length": 753,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "n.*458C>T",
"hgvs_p": null,
"transcript": "ENST00000555057.5",
"protein_id": "ENSP00000450951.1",
"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": 2113,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "n.*458C>T",
"hgvs_p": null,
"transcript": "ENST00000555057.5",
"protein_id": "ENSP00000450951.1",
"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": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Trp",
"transcript": "NM_001288781.1",
"protein_id": "NP_001275710.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 531,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "NM_198309.3",
"protein_id": "NP_938051.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 505,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "NM_001366535.2",
"protein_id": "NP_001353464.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 477,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Trp",
"transcript": "NM_198310.3",
"protein_id": "NP_938052.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 475,
"cds_start": 931,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Trp",
"transcript": "NM_001366536.2",
"protein_id": "NP_001353465.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 447,
"cds_start": 931,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 5070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Arg300Trp",
"transcript": "ENST00000554686.5",
"protein_id": "ENSP00000452354.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 436,
"cds_start": 898,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Arg153Trp",
"transcript": "NM_001288782.1",
"protein_id": "NP_001275711.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 317,
"cds_start": 457,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Trp",
"transcript": "NM_001288783.1",
"protein_id": "NP_001275712.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 276,
"cds_start": 334,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367Trp",
"transcript": "XM_011536433.3",
"protein_id": "XP_011534735.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 503,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "c.1009C>T",
"hgvs_p": "p.Arg337Trp",
"transcript": "XM_011536434.3",
"protein_id": "XP_011534736.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 501,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 5309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "n.*323C>T",
"hgvs_p": null,
"transcript": "ENST00000557580.3",
"protein_id": "ENSP00000451955.2",
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "n.1138C>T",
"hgvs_p": null,
"transcript": "NR_159362.2",
"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": 5304,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"hgvs_c": "n.*323C>T",
"hgvs_p": null,
"transcript": "ENST00000557580.3",
"protein_id": "ENSP00000451955.2",
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTC8",
"gene_hgnc_id": 20087,
"dbsnp": "rs755412340",
"frequency_reference_population": 0.000011776417,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000752678,
"gnomad_genomes_af": 0.0000526503,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8288609385490417,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7239999771118164,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.494,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.78,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.971544113595876,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000380656.7",
"gene_symbol": "TTC8",
"hgnc_id": 20087,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Trp"
}
],
"clinvar_disease": "Bardet-Biedl syndrome,Bardet-Biedl syndrome 8,Retinitis pigmentosa 51,TTC8-related disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Bardet-Biedl syndrome 8;Retinitis pigmentosa 51|Bardet-Biedl syndrome|Bardet-Biedl syndrome 8|TTC8-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}