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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-71537917-GGG-CGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71537917&ref=GGG&alt=CGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Moderate",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OGT",
"hgnc_id": 8127,
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"inheritance_mode": "XL",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_181672.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1_Moderate,PP2,PP3",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 503,
"cds_end": null,
"cds_length": 3141,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181672.3",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373719.8",
"protein_coding": true,
"protein_id": "NP_858058.1",
"strand": true,
"transcript": "NM_181672.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 503,
"cds_end": null,
"cds_length": 3141,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373719.8",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181672.3",
"protein_coding": true,
"protein_id": "ENSP00000362824.3",
"strand": true,
"transcript": "ENST00000373719.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "G",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 454,
"cds_end": null,
"cds_length": 3111,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373701.7",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.277_279delGGGinsCGC",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362805.3",
"strand": true,
"transcript": "ENST00000373701.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5431,
"cdna_start": 505,
"cds_end": null,
"cds_length": 3135,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925317.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595376.1",
"strand": true,
"transcript": "ENST00000925317.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "G",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 432,
"cds_end": null,
"cds_length": 3123,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899817.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.277_279delGGGinsCGC",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569876.1",
"strand": true,
"transcript": "ENST00000899817.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "G",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 473,
"cds_end": null,
"cds_length": 3111,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181673.3",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.277_279delGGGinsCGC",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_858059.1",
"strand": true,
"transcript": "NM_181673.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3865,
"cdna_start": 503,
"cds_end": null,
"cds_length": 3111,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899821.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569880.1",
"strand": true,
"transcript": "ENST00000899821.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5312,
"cdna_start": 503,
"cds_end": null,
"cds_length": 3075,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899818.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569877.1",
"strand": true,
"transcript": "ENST00000899818.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 499,
"cds_end": null,
"cds_length": 3072,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699749.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514559.1",
"strand": true,
"transcript": "ENST00000699749.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5363,
"cdna_start": 524,
"cds_end": null,
"cds_length": 3051,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925316.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595375.1",
"strand": true,
"transcript": "ENST00000925316.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "G",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5256,
"cdna_start": 476,
"cds_end": null,
"cds_length": 3042,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699782.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.277_279delGGGinsCGC",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514588.1",
"strand": true,
"transcript": "ENST00000699782.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5260,
"cdna_start": 502,
"cds_end": null,
"cds_length": 3024,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899819.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569878.1",
"strand": true,
"transcript": "ENST00000899819.1",
"transcript_support_level": null
},
{
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"aa_length": 1004,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5309,
"cdna_start": 503,
"cds_end": null,
"cds_length": 3015,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899814.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569873.1",
"strand": true,
"transcript": "ENST00000899814.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 997,
"aa_ref": "G",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5253,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2994,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699784.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.277_279delGGGinsCGC",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514590.1",
"strand": true,
"transcript": "ENST00000699784.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 468,
"cds_end": null,
"cds_length": 2985,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699783.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.277_279delGGGinsCGC",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514589.1",
"strand": true,
"transcript": "ENST00000699783.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 984,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 503,
"cds_end": null,
"cds_length": 2955,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899815.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569874.1",
"strand": true,
"transcript": "ENST00000899815.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 981,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5237,
"cdna_start": 502,
"cds_end": null,
"cds_length": 2946,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925318.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595377.1",
"strand": true,
"transcript": "ENST00000925318.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5218,
"cdna_start": 472,
"cds_end": null,
"cds_length": 2925,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899816.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.277_279delGGGinsCGC",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569875.1",
"strand": true,
"transcript": "ENST00000899816.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3640,
"cdna_start": 524,
"cds_end": null,
"cds_length": 2865,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899820.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.307_309delGGGinsCGC",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569879.1",
"strand": true,
"transcript": "ENST00000899820.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 944,
"aa_ref": "G",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": 476,
"cds_end": null,
"cds_length": 2835,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899812.1",
"gene_hgnc_id": 8127,
"gene_symbol": "OGT",
"hgvs_c": "c.277_279delGGGinsCGC",
"hgvs_p": "p.Gly93Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569871.1",
"strand": true,
"transcript": "ENST00000899812.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 155,
"aa_ref": "G",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": 343,
"cds_end": null,
"cds_length": 469,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444774.3",
"gene_hgnc_id": 8127,
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