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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: 15-72752576-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72752576&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADPGK",
"hgnc_id": 25250,
"hgvs_c": "c.1259T>C",
"hgvs_p": "p.Ile420Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001365225.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.3802,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5065049529075623,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 497,
"aa_ref": "I",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001365225.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1259T>C",
"hgvs_p": "p.Ile420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000456471.3",
"protein_coding": true,
"protein_id": "NP_001352154.1",
"strand": false,
"transcript": "NM_001365225.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 497,
"aa_ref": "I",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000456471.3",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1259T>C",
"hgvs_p": "p.Ile420Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365225.1",
"protein_coding": true,
"protein_id": "ENSP00000397694.3",
"strand": false,
"transcript": "ENST00000456471.3",
"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": 4576,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000562621.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "n.3372T>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": "ENST00000562621.1",
"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": 2716,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000567941.5",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "n.*1232T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458102.1",
"strand": false,
"transcript": "ENST00000567941.5",
"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": 1820,
"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": "ENST00000569693.5",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "n.*533T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457572.1",
"strand": false,
"transcript": "ENST00000569693.5",
"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": 2716,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000567941.5",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "n.*1232T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458102.1",
"strand": false,
"transcript": "ENST00000567941.5",
"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": 1820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000569693.5",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "n.*533T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457572.1",
"strand": false,
"transcript": "ENST00000569693.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 511,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000957653.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1301T>C",
"hgvs_p": "p.Ile434Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627712.1",
"strand": false,
"transcript": "ENST00000957653.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 501,
"aa_ref": "I",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853936.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1271T>C",
"hgvs_p": "p.Ile424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523995.1",
"strand": false,
"transcript": "ENST00000853936.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 500,
"aa_ref": "I",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853934.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1268T>C",
"hgvs_p": "p.Ile423Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523993.1",
"strand": false,
"transcript": "ENST00000853934.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 496,
"aa_ref": "I",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_031284.5",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1256T>C",
"hgvs_p": "p.Ile419Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112574.3",
"strand": false,
"transcript": "NM_031284.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 496,
"aa_ref": "I",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2557,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1256,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000311669.12",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1256T>C",
"hgvs_p": "p.Ile419Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312250.8",
"strand": false,
"transcript": "ENST00000311669.12",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "I",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853929.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Ile399Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523988.1",
"strand": false,
"transcript": "ENST00000853929.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 476,
"aa_ref": "I",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853935.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Ile399Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523994.1",
"strand": false,
"transcript": "ENST00000853935.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853931.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1193T>C",
"hgvs_p": "p.Ile398Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523990.1",
"strand": false,
"transcript": "ENST00000853931.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 464,
"aa_ref": "I",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1228,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1160,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000957652.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1160T>C",
"hgvs_p": "p.Ile387Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627711.1",
"strand": false,
"transcript": "ENST00000957652.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 463,
"aa_ref": "I",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000853930.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1157T>C",
"hgvs_p": "p.Ile386Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523989.1",
"strand": false,
"transcript": "ENST00000853930.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 463,
"aa_ref": "I",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853937.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.1157T>C",
"hgvs_p": "p.Ile386Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523996.1",
"strand": false,
"transcript": "ENST00000853937.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 391,
"aa_ref": "I",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1176,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931831.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.941T>C",
"hgvs_p": "p.Ile314Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601890.1",
"strand": false,
"transcript": "ENST00000931831.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 390,
"aa_ref": "I",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1173,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931832.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.938T>C",
"hgvs_p": "p.Ile313Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601891.1",
"strand": false,
"transcript": "ENST00000931832.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 375,
"aa_ref": "I",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2821,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1128,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001365226.1",
"gene_hgnc_id": 25250,
"gene_symbol": "ADPGK",
"hgvs_c": "c.893T>C",
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