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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: 13-100209354-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100209354&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "PCCA",
"hgnc_id": 8653,
"hgvs_c": "c.-376T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001352610.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.5378,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "13",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Propionic acidemia",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9936909079551697,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 728,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2187,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000282.4",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376285.6",
"protein_coding": true,
"protein_id": "NP_000273.2",
"strand": true,
"transcript": "NM_000282.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 728,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2187,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000376285.6",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000282.4",
"protein_coding": true,
"protein_id": "ENSP00000365462.1",
"strand": true,
"transcript": "ENST00000376285.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 413,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": null,
"cds_end": null,
"cds_length": 1242,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001352610.2",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.-376T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339539.1",
"strand": true,
"transcript": "NM_001352610.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 395,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": null,
"cds_end": null,
"cds_length": 1188,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001352611.2",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.-376T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339540.1",
"strand": true,
"transcript": "NM_001352611.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": null,
"cds_end": null,
"cds_length": 1098,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001352612.2",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.-376T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339541.1",
"strand": true,
"transcript": "NM_001352612.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 769,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 516,
"cds_end": null,
"cds_length": 2310,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881637.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551696.1",
"strand": true,
"transcript": "ENST00000881637.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 763,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2292,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881640.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551699.1",
"strand": true,
"transcript": "ENST00000881640.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 762,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 514,
"cds_end": null,
"cds_length": 2289,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956821.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626880.1",
"strand": true,
"transcript": "ENST00000956821.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 758,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 499,
"cds_end": null,
"cds_length": 2277,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881647.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551706.1",
"strand": true,
"transcript": "ENST00000881647.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 753,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2262,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881631.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551690.1",
"strand": true,
"transcript": "ENST00000881631.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 738,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 501,
"cds_end": null,
"cds_length": 2217,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881644.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551703.1",
"strand": true,
"transcript": "ENST00000881644.1",
"transcript_support_level": null
},
{
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"aa_length": 726,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 497,
"cds_end": null,
"cds_length": 2181,
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"consequences": [
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],
"exon_count": 24,
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"exon_rank_end": null,
"feature": "ENST00000940854.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610913.1",
"strand": true,
"transcript": "ENST00000940854.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 516,
"cds_end": null,
"cds_length": 2175,
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"consequences": [
"missense_variant"
],
"exon_count": 24,
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"exon_rank_end": null,
"feature": "ENST00000881635.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551694.1",
"strand": true,
"transcript": "ENST00000881635.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 710,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2133,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001352605.2",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339534.1",
"strand": true,
"transcript": "NM_001352605.2",
"transcript_support_level": null
},
{
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"aa_length": 710,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 549,
"cds_end": null,
"cds_length": 2133,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881625.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551684.1",
"strand": true,
"transcript": "ENST00000881625.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 710,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 447,
"cds_end": null,
"cds_length": 2133,
"cds_start": 437,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956823.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.437T>C",
"hgvs_p": "p.Ile146Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626882.1",
"strand": true,
"transcript": "ENST00000956823.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 705,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 495,
"cds_end": null,
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"cds_start": 491,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 7,
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"feature": "ENST00000956827.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626886.1",
"strand": true,
"transcript": "ENST00000956827.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001127692.3",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Ile138Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121164.1",
"strand": true,
"transcript": "NM_001127692.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 519,
"cds_end": null,
"cds_length": 2109,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376286.8",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Ile138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365463.4",
"strand": true,
"transcript": "ENST00000376286.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 697,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2094,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881634.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551693.1",
"strand": true,
"transcript": "ENST00000881634.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 695,
"aa_ref": "I",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 529,
"cds_end": null,
"cds_length": 2088,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881627.1",
"gene_hgnc_id": 8653,
"gene_symbol": "PCCA",
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"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.822,
"pos": 100209354,
"ref": "T",
"revel_prediction": "Pathogenic",
"revel_score": 0.98,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001352610.2"
}
]
}