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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: 15-65266577-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65266577&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PARP16",
"hgnc_id": 26040,
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_017851.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.46000000834465027,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 961,
"cds_end": null,
"cds_length": 969,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001316943.2",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649807.2",
"protein_coding": true,
"protein_id": "NP_001303872.1",
"strand": false,
"transcript": "NM_001316943.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 961,
"cds_end": null,
"cds_length": 969,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000649807.2",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001316943.2",
"protein_coding": true,
"protein_id": "ENSP00000496935.1",
"strand": false,
"transcript": "ENST00000649807.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 950,
"cds_end": null,
"cds_length": 972,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000261888.10",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261888.6",
"strand": false,
"transcript": "ENST00000261888.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 361,
"aa_ref": "H",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1086,
"cds_start": 621,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906476.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.621C>T",
"hgvs_p": "p.His207His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576535.1",
"strand": false,
"transcript": "ENST00000906476.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 334,
"aa_ref": "H",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1005,
"cds_start": 540,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966191.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.540C>T",
"hgvs_p": "p.His180His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636250.1",
"strand": false,
"transcript": "ENST00000966191.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 961,
"cds_end": null,
"cds_length": 972,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_017851.6",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060321.3",
"strand": false,
"transcript": "NM_017851.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 304,
"aa_ref": "H",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 948,
"cds_end": null,
"cds_length": 915,
"cds_start": 447,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906477.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.447C>T",
"hgvs_p": "p.His149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576536.1",
"strand": false,
"transcript": "ENST00000906477.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "H",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 917,
"cds_end": null,
"cds_length": 912,
"cds_start": 447,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906479.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.447C>T",
"hgvs_p": "p.His149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576538.1",
"strand": false,
"transcript": "ENST00000906479.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 277,
"aa_ref": "H",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 828,
"cds_end": null,
"cds_length": 834,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906481.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576540.1",
"strand": false,
"transcript": "ENST00000906481.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 276,
"aa_ref": "H",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": 860,
"cds_end": null,
"cds_length": 831,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906478.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576537.1",
"strand": false,
"transcript": "ENST00000906478.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 311,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 961,
"cds_end": null,
"cds_length": 936,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006720589.4",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720652.1",
"strand": false,
"transcript": "XM_006720589.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 310,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 961,
"cds_end": null,
"cds_length": 933,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006720590.4",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720653.1",
"strand": false,
"transcript": "XM_006720590.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 309,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2665,
"cdna_start": 961,
"cds_end": null,
"cds_length": 930,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047432775.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288731.1",
"strand": false,
"transcript": "XM_047432775.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 308,
"aa_ref": "H",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 961,
"cds_end": null,
"cds_length": 927,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047432776.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.His168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288732.1",
"strand": false,
"transcript": "XM_047432776.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 304,
"aa_ref": "H",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 904,
"cds_end": null,
"cds_length": 915,
"cds_start": 447,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006720592.4",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.447C>T",
"hgvs_p": "p.His149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720655.1",
"strand": false,
"transcript": "XM_006720592.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "H",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 904,
"cds_end": null,
"cds_length": 912,
"cds_start": 447,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017022386.3",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.447C>T",
"hgvs_p": "p.His149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877875.1",
"strand": false,
"transcript": "XM_017022386.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 291,
"aa_ref": "H",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 904,
"cds_end": null,
"cds_length": 876,
"cds_start": 447,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047432777.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.447C>T",
"hgvs_p": "p.His149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288733.1",
"strand": false,
"transcript": "XM_047432777.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 277,
"aa_ref": "H",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 823,
"cds_end": null,
"cds_length": 834,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011521742.4",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520044.1",
"strand": false,
"transcript": "XM_011521742.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 276,
"aa_ref": "H",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 823,
"cds_end": null,
"cds_length": 831,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017022387.3",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877876.1",
"strand": false,
"transcript": "XM_017022387.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 263,
"aa_ref": "H",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 823,
"cds_end": null,
"cds_length": 792,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024449969.2",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.366C>T",
"hgvs_p": "p.His122His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305737.1",
"strand": false,
"transcript": "XM_024449969.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 254,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": null,
"cds_end": null,
"cds_length": 765,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906483.1",
"gene_hgnc_id": 26040,
"gene_symbol": "PARP16",
"hgvs_c": "c.313-3257C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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