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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: 17-28574785-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28574785&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALDOC",
"hgnc_id": 418,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_005165.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RSKR",
"hgnc_id": 26314,
"hgvs_c": "n.*1195+29266G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000481916.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.9532,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9180178046226501,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1095,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005165.3",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000226253.9",
"protein_coding": true,
"protein_id": "NP_005156.1",
"strand": false,
"transcript": "NM_005165.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1095,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000226253.9",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005165.3",
"protein_coding": true,
"protein_id": "ENSP00000226253.4",
"strand": false,
"transcript": "ENST00000226253.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000481916.6",
"gene_hgnc_id": 26314,
"gene_symbol": "RSKR",
"hgvs_c": "n.*1195+29266G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436369.2",
"strand": false,
"transcript": "ENST00000481916.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1119,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854233.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524292.1",
"strand": false,
"transcript": "ENST00000854233.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1675,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1119,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854235.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524294.1",
"strand": false,
"transcript": "ENST00000854235.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 371,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1626,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1116,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854234.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524293.1",
"strand": false,
"transcript": "ENST00000854234.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 667,
"cds_end": null,
"cds_length": 1095,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000395321.6",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378731.2",
"strand": false,
"transcript": "ENST00000395321.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1095,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854236.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524295.1",
"strand": false,
"transcript": "ENST00000854236.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1095,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918178.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588237.1",
"strand": false,
"transcript": "ENST00000918178.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1095,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949879.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619938.1",
"strand": false,
"transcript": "ENST00000949879.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 363,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1092,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918177.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588236.1",
"strand": false,
"transcript": "ENST00000918177.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 363,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1092,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949877.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619936.1",
"strand": false,
"transcript": "ENST00000949877.1",
"transcript_support_level": null
},
{
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"aa_length": 341,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1026,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949878.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619937.1",
"strand": false,
"transcript": "ENST00000949878.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 336,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1011,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000395319.7",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378729.3",
"strand": false,
"transcript": "ENST00000395319.7",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1236,
"cdna_start": 561,
"cds_end": null,
"cds_length": 720,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918179.1",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588238.1",
"strand": false,
"transcript": "ENST00000918179.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 179,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": 833,
"cds_end": null,
"cds_length": 540,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000460201.6",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463174.2",
"strand": false,
"transcript": "ENST00000460201.6",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 174,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": 611,
"cds_end": null,
"cds_length": 526,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000584086.5",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462674.1",
"strand": false,
"transcript": "ENST00000584086.5",
"transcript_support_level": 3
},
{
"aa_alt": "M",
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"aa_length": 134,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": 509,
"cds_end": null,
"cds_length": 405,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000581807.5",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Val112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465623.1",
"strand": false,
"transcript": "ENST00000581807.5",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1095,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005257949.3",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258006.1",
"strand": false,
"transcript": "XM_005257949.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1095,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011524556.3",
"gene_hgnc_id": 418,
"gene_symbol": "ALDOC",
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522858.1",
"strand": false,
"transcript": "XM_011524556.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 148,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": null,
"cds_end": null,
"cds_length": 448,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435638.5",
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]
}