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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: 11-6615289-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6615289&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TPP1",
"hgnc_id": 2073,
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Leu436Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_000391.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000285338",
"hgnc_id": null,
"hgvs_c": "n.512T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000532191.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 86,
"alphamissense_prediction": null,
"alphamissense_score": 0.2408,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,Neuronal ceroid lipofuscinosis 2,Seizure,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08706516027450562,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000391.4",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Leu436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299427.12",
"protein_coding": true,
"protein_id": "NP_000382.3",
"strand": false,
"transcript": "NM_000391.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000299427.12",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Leu436Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000391.4",
"protein_coding": true,
"protein_id": "ENSP00000299427.6",
"strand": false,
"transcript": "ENST00000299427.12",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 320,
"aa_ref": "L",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 963,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000533371.6",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Leu193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437066.1",
"strand": false,
"transcript": "ENST00000533371.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 562,
"aa_ref": "L",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895469.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1304T>C",
"hgvs_p": "p.Leu435Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565528.1",
"strand": false,
"transcript": "ENST00000895469.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 537,
"aa_ref": "L",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895471.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1229T>C",
"hgvs_p": "p.Leu410Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565530.1",
"strand": false,
"transcript": "ENST00000895471.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "L",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3399,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000895470.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1214T>C",
"hgvs_p": "p.Leu405Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565529.1",
"strand": false,
"transcript": "ENST00000895470.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 525,
"aa_ref": "L",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000682424.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1193T>C",
"hgvs_p": "p.Leu398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507321.1",
"strand": false,
"transcript": "ENST00000682424.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 500,
"aa_ref": "L",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644218.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1118T>C",
"hgvs_p": "p.Leu373Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493574.1",
"strand": false,
"transcript": "ENST00000644218.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "L",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000644810.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.1028T>C",
"hgvs_p": "p.Leu343Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495895.1",
"strand": false,
"transcript": "ENST00000644810.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1200,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643516.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Leu272Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496372.1",
"strand": false,
"transcript": "ENST00000643516.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 344,
"aa_ref": "L",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1035,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000931962.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Leu217Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602021.1",
"strand": false,
"transcript": "ENST00000931962.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 320,
"aa_ref": "L",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 963,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000642892.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Leu193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494165.1",
"strand": false,
"transcript": "ENST00000642892.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 320,
"aa_ref": "L",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 963,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000645620.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Leu193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493657.1",
"strand": false,
"transcript": "ENST00000645620.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 320,
"aa_ref": "L",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 963,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000647152.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Leu193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495893.1",
"strand": false,
"transcript": "ENST00000647152.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 211,
"aa_ref": "L",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 280,
"cds_end": null,
"cds_length": 636,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895468.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565527.1",
"strand": false,
"transcript": "ENST00000895468.1",
"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": 2495,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000524611.2",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "n.167T>C",
"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": "ENST00000524611.2",
"transcript_support_level": 2
},
{
"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": 757,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000524924.2",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "n.427T>C",
"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": "ENST00000524924.2",
"transcript_support_level": 3
},
{
"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": 1349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532191.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285338",
"hgvs_c": "n.512T>C",
"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": "ENST00000532191.2",
"transcript_support_level": 2
},
{
"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": 2007,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000643342.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "n.*102T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494324.1",
"strand": false,
"transcript": "ENST00000643342.1",
"transcript_support_level": null
},
{
"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": 3288,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000643439.1",
"gene_hgnc_id": 2073,
"gene_symbol": "TPP1",
"hgvs_c": "n.*1047T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495849.1",
"strand": false,
"transcript": "ENST00000643439.1",
"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": 3640,
"cdna_start": null,
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