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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: 2-86337501-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86337501&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86337501,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000538924.7",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "NM_001371279.1",
"protein_id": "NP_001358208.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 284,
"cds_start": 10,
"cds_end": null,
"cds_length": 855,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "ENST00000538924.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "ENST00000538924.7",
"protein_id": "ENSP00000438346.3",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 284,
"cds_start": 10,
"cds_end": null,
"cds_length": 855,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "NM_001371279.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "ENST00000165698.9",
"protein_id": "ENSP00000165698.5",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 201,
"cds_start": 10,
"cds_end": null,
"cds_length": 606,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000686220.1",
"protein_id": "ENSP00000509904.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 223,
"cds_start": 2,
"cds_end": null,
"cds_length": 672,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_001164731.2",
"protein_id": "NP_001158203.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 174,
"cds_start": 2,
"cds_end": null,
"cds_length": 525,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000535845.6",
"protein_id": "ENSP00000437567.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 174,
"cds_start": 2,
"cds_end": null,
"cds_length": 525,
"cdna_start": 127,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "NM_001410855.1",
"protein_id": "NP_001397784.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 272,
"cds_start": 10,
"cds_end": null,
"cds_length": 819,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "ENST00000643817.2",
"protein_id": "ENSP00000495610.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 272,
"cds_start": 10,
"cds_end": null,
"cds_length": 819,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "NM_001410856.1",
"protein_id": "NP_001397785.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 213,
"cds_start": 10,
"cds_end": null,
"cds_length": 642,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "ENST00000691703.1",
"protein_id": "ENSP00000508496.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 213,
"cds_start": 10,
"cds_end": null,
"cds_length": 642,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "NM_022912.3",
"protein_id": "NP_075063.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 201,
"cds_start": 10,
"cds_end": null,
"cds_length": 606,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "NM_001371280.1",
"protein_id": "NP_001358209.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 162,
"cds_start": 10,
"cds_end": null,
"cds_length": 489,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "ENST00000689156.1",
"protein_id": "ENSP00000509143.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 162,
"cds_start": 10,
"cds_end": null,
"cds_length": 489,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "ENST00000692664.1",
"protein_id": "ENSP00000508656.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 151,
"cds_start": 10,
"cds_end": null,
"cds_length": 456,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "NM_001164732.2",
"protein_id": "NP_001158204.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 143,
"cds_start": 10,
"cds_end": null,
"cds_length": 432,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "ENST00000541910.6",
"protein_id": "ENSP00000442681.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 143,
"cds_start": 10,
"cds_end": null,
"cds_length": 432,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg",
"transcript": "ENST00000688400.1",
"protein_id": "ENSP00000510490.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 97,
"cds_start": 10,
"cds_end": null,
"cds_length": 294,
"cdna_start": 10,
"cdna_end": null,
"cdna_length": 2330,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "n.10T>A",
"hgvs_p": null,
"transcript": "ENST00000693329.1",
"protein_id": "ENSP00000508490.1",
"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": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.-94T>A",
"hgvs_p": null,
"transcript": "ENST00000691093.1",
"protein_id": "ENSP00000509465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": -4,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.53+523T>A",
"hgvs_p": null,
"transcript": "NM_001164730.2",
"protein_id": "NP_001158202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.53+523T>A",
"hgvs_p": null,
"transcript": "ENST00000453231.6",
"protein_id": "ENSP00000392197.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 940,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "n.-32T>A",
"hgvs_p": null,
"transcript": "ENST00000473407.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"dbsnp": "rs863224189",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6227469444274902,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.547,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.931,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000538924.7",
"gene_symbol": "REEP1",
"hgnc_id": 25786,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.10T>A",
"hgvs_p": "p.Trp4Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}