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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: 9-19116636-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19116636&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLIN2",
"hgnc_id": 248,
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001122.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 73,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0716,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09361374378204346,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001122.4",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000276914.7",
"protein_coding": true,
"protein_id": "NP_001113.2",
"strand": false,
"transcript": "NM_001122.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000276914.7",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001122.4",
"protein_coding": true,
"protein_id": "ENSP00000276914.2",
"strand": false,
"transcript": "ENST00000276914.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1341,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000957811.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627870.1",
"strand": false,
"transcript": "ENST00000957811.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907780.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577839.1",
"strand": false,
"transcript": "ENST00000907780.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907781.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577840.1",
"strand": false,
"transcript": "ENST00000907781.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907782.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577841.1",
"strand": false,
"transcript": "ENST00000907782.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907783.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577842.1",
"strand": false,
"transcript": "ENST00000907783.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907784.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577843.1",
"strand": false,
"transcript": "ENST00000907784.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907785.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577844.1",
"strand": false,
"transcript": "ENST00000907785.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907786.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577845.1",
"strand": false,
"transcript": "ENST00000907786.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907787.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577846.1",
"strand": false,
"transcript": "ENST00000907787.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907790.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577849.1",
"strand": false,
"transcript": "ENST00000907790.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907791.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577850.1",
"strand": false,
"transcript": "ENST00000907791.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907792.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577851.1",
"strand": false,
"transcript": "ENST00000907792.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000957805.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627864.1",
"strand": false,
"transcript": "ENST00000957805.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000957808.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627867.1",
"strand": false,
"transcript": "ENST00000957808.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000957809.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627868.1",
"strand": false,
"transcript": "ENST00000957809.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000957810.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627869.1",
"strand": false,
"transcript": "ENST00000957810.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000957817.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627876.1",
"strand": false,
"transcript": "ENST00000957817.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 437,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1314,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000957818.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.926G>A",
"hgvs_p": "p.Arg309His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627877.1",
"strand": false,
"transcript": "ENST00000957818.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1308,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907788.1",
"gene_hgnc_id": 248,
"gene_symbol": "PLIN2",
"hgvs_c": "c.920G>A",
"hgvs_p": "p.Arg307His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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