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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: X-18779026-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18779026&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18779026,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000470157.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_001377996.1",
"protein_id": "NP_001364925.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": "ENST00000470157.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "ENST00000470157.2",
"protein_id": "ENSP00000419273.2",
"transcript_support_level": 3,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": "NM_001377996.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "ENST00000361511.9",
"protein_id": "ENSP00000354871.3",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_001377986.2",
"protein_id": "NP_001364915.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_001377993.1",
"protein_id": "NP_001364922.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_001378381.1",
"protein_id": "NP_001365310.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_001389620.1",
"protein_id": "NP_001376549.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_001389621.1",
"protein_id": "NP_001376550.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_006240.4",
"protein_id": "NP_006231.2",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "ENST00000471570.6",
"protein_id": "ENSP00000509623.1",
"transcript_support_level": 3,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "ENST00000689646.1",
"protein_id": "ENSP00000509616.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "ENST00000692488.1",
"protein_id": "ENSP00000510505.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 653,
"cds_start": 575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "ENST00000472826.6",
"protein_id": "ENSP00000419948.2",
"transcript_support_level": 4,
"aa_start": 192,
"aa_end": null,
"aa_length": 634,
"cds_start": 575,
"cds_end": null,
"cds_length": 1907,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_152224.2",
"protein_id": "NP_689410.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 625,
"cds_start": 575,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_001389623.1",
"protein_id": "NP_001376552.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 591,
"cds_start": 575,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "NM_152226.2",
"protein_id": "NP_689412.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 591,
"cds_start": 575,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.575A>T",
"hgvs_p": "p.Glu192Val",
"transcript": "ENST00000349874.10",
"protein_id": "ENSP00000341892.5",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 591,
"cds_start": 575,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.380A>T",
"hgvs_p": "p.Glu127Val",
"transcript": "NM_001377994.1",
"protein_id": "NP_001364923.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 588,
"cds_start": 380,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.305A>T",
"hgvs_p": "p.Glu102Val",
"transcript": "NM_001377995.1",
"protein_id": "NP_001364924.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 563,
"cds_start": 305,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.305A>T",
"hgvs_p": "p.Glu102Val",
"transcript": "NM_001389624.1",
"protein_id": "NP_001376553.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 563,
"cds_start": 305,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.305A>T",
"hgvs_p": "p.Glu102Val",
"transcript": "ENST00000496616.6",
"protein_id": "ENSP00000508824.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 563,
"cds_start": 305,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.299A>T",
"hgvs_p": "p.Glu100Val",
"transcript": "NM_001378382.1",
"protein_id": "NP_001365311.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 561,
"cds_start": 299,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.119A>T",
"hgvs_p": "p.Glu40Val",
"transcript": "ENST00000496075.2",
"protein_id": "ENSP00000418623.2",
"transcript_support_level": 5,
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{
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},
{
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],
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}
],
"gene_symbol": "PPEF1",
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"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": 0.0889107882976532,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.026,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000470157.2",
"gene_symbol": "PPEF1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.575A>T",
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],
"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
}