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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: 3-194406081-GG-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=194406081&ref=GG&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP13A3",
"hgnc_id": 24113,
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"inheritance_mode": "SD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001367549.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7538,
"cdna_start": 4134,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367549.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645319.2",
"protein_coding": true,
"protein_id": "NP_001354478.1",
"strand": false,
"transcript": "NM_001367549.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7538,
"cdna_start": 4134,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645319.2",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367549.1",
"protein_coding": true,
"protein_id": "ENSP00000494937.2",
"strand": false,
"transcript": "ENST00000645319.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4819,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000429136.7",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "n.1454_1455delCCinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000429136.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000461660.2",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "n.712_713delCCinsGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461660.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "P",
"aa_start": 1242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7676,
"cdna_start": 4279,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3725,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963858.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3725_3726delCCinsGA",
"hgvs_p": "p.Pro1242Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633917.1",
"strand": false,
"transcript": "ENST00000963858.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1295,
"aa_ref": "P",
"aa_start": 1242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 4046,
"cds_end": null,
"cds_length": 3888,
"cds_start": 3725,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963862.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3725_3726delCCinsGA",
"hgvs_p": "p.Pro1242Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633921.1",
"strand": false,
"transcript": "ENST00000963862.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7366,
"cdna_start": 3957,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856972.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527031.1",
"strand": false,
"transcript": "ENST00000856972.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7237,
"cdna_start": 3836,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856973.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527032.1",
"strand": false,
"transcript": "ENST00000856973.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4215,
"cdna_start": 3853,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856974.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527033.1",
"strand": false,
"transcript": "ENST00000856974.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7522,
"cdna_start": 4118,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856975.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527034.1",
"strand": false,
"transcript": "ENST00000856975.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7504,
"cdna_start": 4097,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920215.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590274.1",
"strand": false,
"transcript": "ENST00000920215.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7607,
"cdna_start": 4208,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920218.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590277.1",
"strand": false,
"transcript": "ENST00000920218.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7355,
"cdna_start": 3954,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3608,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963861.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3608_3609delCCinsGA",
"hgvs_p": "p.Pro1203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633920.1",
"strand": false,
"transcript": "ENST00000963861.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "P",
"aa_start": 1182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 3630,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3545,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963860.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3545_3546delCCinsGA",
"hgvs_p": "p.Pro1182Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633919.1",
"strand": false,
"transcript": "ENST00000963860.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "P",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7457,
"cdna_start": 4053,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3527,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374836.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3527_3528delCCinsGA",
"hgvs_p": "p.Pro1176Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361765.1",
"strand": false,
"transcript": "NM_001374836.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "P",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7478,
"cdna_start": 4072,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3527,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920212.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3527_3528delCCinsGA",
"hgvs_p": "p.Pro1176Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590271.1",
"strand": false,
"transcript": "ENST00000920212.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "P",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5576,
"cdna_start": 3834,
"cds_end": null,
"cds_length": 3690,
"cds_start": 3527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963864.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3527_3528delCCinsGA",
"hgvs_p": "p.Pro1176Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633923.1",
"strand": false,
"transcript": "ENST00000963864.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "P",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 4044,
"cds_end": null,
"cds_length": 3681,
"cds_start": 3518,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001437993.1",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3518_3519delCCinsGA",
"hgvs_p": "p.Pro1173Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424922.1",
"strand": false,
"transcript": "NM_001437993.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "P",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7471,
"cdna_start": 4067,
"cds_end": null,
"cds_length": 3681,
"cds_start": 3518,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024524.4",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3518_3519delCCinsGA",
"hgvs_p": "p.Pro1173Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078800.3",
"strand": false,
"transcript": "NM_024524.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "P",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4085,
"cdna_start": 3923,
"cds_end": null,
"cds_length": 3681,
"cds_start": 3518,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439040.6",
"gene_hgnc_id": 24113,
"gene_symbol": "ATP13A3",
"hgvs_c": "c.3518_3519delCCinsGA",
"hgvs_p": "p.Pro1173Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416508.1",
"strand": false,
"transcript": "ENST00000439040.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "P",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 4044,
"cds_end": null,
"cds_length": 3681,
"cds_start": 3518,
"consequences": [
"missense_variant"
],
"exon_count": 33,
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