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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: 16-14582271-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14582271&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PARN",
"hgnc_id": 8609,
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ser368Gly",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_002582.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0679,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.39082419872283936,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 639,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_002582.4",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ser368Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000437198.7",
"protein_coding": true,
"protein_id": "NP_002573.1",
"strand": false,
"transcript": "NM_002582.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 639,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000437198.7",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ser368Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002582.4",
"protein_coding": true,
"protein_id": "ENSP00000387911.2",
"strand": false,
"transcript": "ENST00000437198.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 691,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000931608.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ser368Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601667.1",
"strand": false,
"transcript": "ENST00000931608.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 664,
"aa_ref": "S",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2884,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000650990.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ser393Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498741.1",
"strand": false,
"transcript": "ENST00000650990.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 659,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000697474.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ser368Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513329.1",
"strand": false,
"transcript": "ENST00000697474.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 638,
"aa_ref": "S",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874419.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Ser367Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544478.1",
"strand": false,
"transcript": "ENST00000874419.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 635,
"aa_ref": "S",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1177,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874418.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ser393Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544477.1",
"strand": false,
"transcript": "ENST00000874418.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 632,
"aa_ref": "S",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000960024.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Ser361Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630083.1",
"strand": false,
"transcript": "ENST00000960024.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 622,
"aa_ref": "S",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874417.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1051A>G",
"hgvs_p": "p.Ser351Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544476.1",
"strand": false,
"transcript": "ENST00000874417.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 620,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000874421.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544480.1",
"strand": false,
"transcript": "ENST00000874421.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 617,
"aa_ref": "S",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000960023.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1036A>G",
"hgvs_p": "p.Ser346Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630082.1",
"strand": false,
"transcript": "ENST00000960023.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 614,
"aa_ref": "S",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000651865.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ser343Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498567.1",
"strand": false,
"transcript": "ENST00000651865.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 613,
"aa_ref": "S",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000874415.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1024A>G",
"hgvs_p": "p.Ser342Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544474.1",
"strand": false,
"transcript": "ENST00000874415.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 612,
"aa_ref": "S",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000874420.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1021A>G",
"hgvs_p": "p.Ser341Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544479.1",
"strand": false,
"transcript": "ENST00000874420.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 610,
"aa_ref": "S",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000874414.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1015A>G",
"hgvs_p": "p.Ser339Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544473.1",
"strand": false,
"transcript": "ENST00000874414.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 610,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874416.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ser368Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544475.1",
"strand": false,
"transcript": "ENST00000874416.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 610,
"aa_ref": "S",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931610.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1015A>G",
"hgvs_p": "p.Ser339Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601669.1",
"strand": false,
"transcript": "ENST00000931610.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1782,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001242992.2",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.964A>G",
"hgvs_p": "p.Ser322Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229921.1",
"strand": false,
"transcript": "NM_001242992.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1782,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000420015.6",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.964A>G",
"hgvs_p": "p.Ser322Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410525.2",
"strand": false,
"transcript": "ENST00000420015.6",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 590,
"aa_ref": "S",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000650960.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.1102A>G",
"hgvs_p": "p.Ser368Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499110.1",
"strand": false,
"transcript": "ENST00000650960.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 589,
"aa_ref": "S",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1770,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000931609.1",
"gene_hgnc_id": 8609,
"gene_symbol": "PARN",
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Ser318Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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