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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: 19-33463006-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33463006&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PEPD",
"hgnc_id": 8840,
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000285.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 58165,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "Prolidase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1482,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000285.4",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000244137.12",
"protein_coding": true,
"protein_id": "NP_000276.2",
"strand": false,
"transcript": "NM_000285.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1482,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000244137.12",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000285.4",
"protein_coding": true,
"protein_id": "ENSP00000244137.5",
"strand": false,
"transcript": "ENST00000244137.12",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 523,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1572,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000651901.2",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498922.2",
"strand": false,
"transcript": "ENST00000651901.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 515,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1548,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000588328.7",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468516.4",
"strand": false,
"transcript": "ENST00000588328.7",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 510,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1533,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698360.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513683.1",
"strand": false,
"transcript": "ENST00000698360.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 507,
"aa_ref": "Y",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1524,
"cds_start": 702,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698427.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.702T>C",
"hgvs_p": "p.Tyr234Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513714.1",
"strand": false,
"transcript": "ENST00000698427.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 506,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1521,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879074.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549133.1",
"strand": false,
"transcript": "ENST00000879074.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 504,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1515,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000947369.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617428.1",
"strand": false,
"transcript": "ENST00000947369.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1488,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698361.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513684.1",
"strand": false,
"transcript": "ENST00000698361.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 488,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1467,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879078.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549137.1",
"strand": false,
"transcript": "ENST00000879078.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 483,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1452,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879073.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549132.1",
"strand": false,
"transcript": "ENST00000879073.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 478,
"aa_ref": "Y",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1437,
"cds_start": 615,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698359.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Tyr205Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513682.1",
"strand": false,
"transcript": "ENST00000698359.1",
"transcript_support_level": null
},
{
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"aa_length": 477,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 628,
"cds_end": null,
"cds_length": 1434,
"cds_start": 612,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947370.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Tyr204Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617429.1",
"strand": false,
"transcript": "ENST00000947370.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 470,
"aa_ref": "Y",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1413,
"cds_start": 660,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879077.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549136.1",
"strand": false,
"transcript": "ENST00000879077.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 444,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1335,
"cds_start": 660,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879075.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.660T>C",
"hgvs_p": "p.Tyr220Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549134.1",
"strand": false,
"transcript": "ENST00000879075.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 429,
"aa_ref": "Y",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1290,
"cds_start": 468,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001166057.2",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Tyr156Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159529.1",
"strand": false,
"transcript": "NM_001166057.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 429,
"aa_ref": "Y",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 496,
"cds_end": null,
"cds_length": 1290,
"cds_start": 468,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000436370.7",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Tyr156Tyr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000391890.2",
"strand": false,
"transcript": "ENST00000436370.7",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
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"aa_length": 429,
"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_length": 1670,
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"cds_end": null,
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"cds_start": 468,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000698432.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.468T>C",
"hgvs_p": "p.Tyr156Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513718.1",
"strand": false,
"transcript": "ENST00000698432.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 420,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 472,
"cds_end": null,
"cds_length": 1263,
"cds_start": 441,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000879076.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.441T>C",
"hgvs_p": "p.Tyr147Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549135.1",
"strand": false,
"transcript": "ENST00000879076.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 386,
"aa_ref": "Y",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 868,
"cds_end": null,
"cds_length": 1161,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000698426.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.339T>C",
"hgvs_p": "p.Tyr113Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513713.1",
"strand": false,
"transcript": "ENST00000698426.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 386,
"aa_ref": "Y",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1161,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000698428.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.339T>C",
"hgvs_p": "p.Tyr113Tyr",
"intron_rank": null,
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