← 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: 8-11802853-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11802853&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11802853,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000220584.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_004462.5",
"protein_id": "NP_004453.3",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 417,
"cds_start": 21,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": "ENST00000220584.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000220584.9",
"protein_id": "ENSP00000220584.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 417,
"cds_start": 21,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": "NM_004462.5",
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.70T>C",
"hgvs_p": null,
"transcript": "ENST00000527045.1",
"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": 642,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.21T>C",
"hgvs_p": null,
"transcript": "ENST00000529464.5",
"protein_id": "ENSP00000434770.1",
"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": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.7T>C",
"hgvs_p": "p.Trp3Arg",
"transcript": "NM_001287756.2",
"protein_id": "NP_001274685.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 250,
"cds_start": 7,
"cds_end": null,
"cds_length": 753,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_001287742.2",
"protein_id": "NP_001274671.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 417,
"cds_start": 21,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu",
"transcript": "NM_001287743.2",
"protein_id": "NP_001274672.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 417,
"cds_start": 21,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000530337.6",
"protein_id": "ENSP00000431852.2",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 417,
"cds_start": 21,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000615631.5",
"protein_id": "ENSP00000481481.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 417,
"cds_start": 21,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000525900.5",
"protein_id": "ENSP00000434714.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 410,
"cds_start": 21,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu",
"transcript": "ENST00000443614.6",
"protein_id": "ENSP00000390367.2",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 374,
"cds_start": 21,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1393,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.211T>C",
"hgvs_p": null,
"transcript": "ENST00000446331.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 1558,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.21T>C",
"hgvs_p": null,
"transcript": "ENST00000525283.5",
"protein_id": "ENSP00000433985.1",
"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": 898,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.86T>C",
"hgvs_p": null,
"transcript": "ENST00000525571.1",
"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": 810,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.21T>C",
"hgvs_p": null,
"transcript": "ENST00000525607.5",
"protein_id": "ENSP00000432551.1",
"transcript_support_level": 2,
"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": 1773,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-369T>C",
"hgvs_p": null,
"transcript": "NM_001287745.2",
"protein_id": "NP_001274674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-93-5941T>C",
"hgvs_p": null,
"transcript": "NM_001287744.2",
"protein_id": "NP_001274673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000255046",
"gene_hgnc_id": null,
"hgvs_c": "n.74+371A>G",
"hgvs_p": null,
"transcript": "ENST00000836904.1",
"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": 399,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-759T>C",
"hgvs_p": null,
"transcript": "NM_001287747.2",
"protein_id": "NP_001274676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2285,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-466T>C",
"hgvs_p": null,
"transcript": "NM_001287748.2",
"protein_id": "NP_001274677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1992,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-759T>C",
"hgvs_p": null,
"transcript": "ENST00000528812.5",
"protein_id": "ENSP00000431749.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.-242T>C",
"hgvs_p": null,
"transcript": "ENST00000525551.1",
"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": 327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"dbsnp": "rs1047643",
"frequency_reference_population": 0.1594676,
"hom_count_reference_population": 22999,
"allele_count_reference_population": 256783,
"gnomad_exomes_af": 0.155795,
"gnomad_genomes_af": 0.194625,
"gnomad_exomes_ac": 227142,
"gnomad_genomes_ac": 29641,
"gnomad_exomes_homalt": 19416,
"gnomad_genomes_homalt": 3583,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.358,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000220584.9",
"gene_symbol": "FDFT1",
"hgnc_id": 3629,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.21T>C",
"hgvs_p": "p.Leu7Leu"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000836904.1",
"gene_symbol": "ENSG00000255046",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.74+371A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}