← Back to variant description
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: 2-219423787-CCC-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219423787&ref=CCC&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM5",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DES",
"hgnc_id": 2770,
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"inheritance_mode": "SD,AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001927.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM5,PP2",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001927.4",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373960.4",
"protein_coding": true,
"protein_id": "NP_001918.3",
"strand": true,
"transcript": "NM_001927.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373960.4",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001927.4",
"protein_coding": true,
"protein_id": "ENSP00000363071.3",
"strand": true,
"transcript": "ENST00000373960.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 511,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942906.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612965.1",
"strand": true,
"transcript": "ENST00000942906.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 508,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942898.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612957.1",
"strand": true,
"transcript": "ENST00000942898.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 506,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869000.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539059.1",
"strand": true,
"transcript": "ENST00000869000.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 494,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868999.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539058.1",
"strand": true,
"transcript": "ENST00000868999.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 490,
"aa_ref": "P",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942903.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1315_1317delCCCinsTCG",
"hgvs_p": "p.Pro439Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612962.1",
"strand": true,
"transcript": "ENST00000942903.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 486,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868989.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539048.1",
"strand": true,
"transcript": "ENST00000868989.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 478,
"aa_ref": "P",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1279,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868993.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1279_1281delCCCinsTCG",
"hgvs_p": "p.Pro427Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539052.1",
"strand": true,
"transcript": "ENST00000868993.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868996.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1276_1278delCCCinsTCG",
"hgvs_p": "p.Pro426Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539055.1",
"strand": true,
"transcript": "ENST00000868996.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 476,
"aa_ref": "P",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868997.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1273_1275delCCCinsTCG",
"hgvs_p": "p.Pro425Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539056.1",
"strand": true,
"transcript": "ENST00000868997.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382708.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1252_1254delCCCinsTCG",
"hgvs_p": "p.Pro418Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369637.1",
"strand": true,
"transcript": "NM_001382708.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868992.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1252_1254delCCCinsTCG",
"hgvs_p": "p.Pro418Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539051.1",
"strand": true,
"transcript": "ENST00000868992.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 466,
"aa_ref": "P",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942892.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1243_1245delCCCinsTCG",
"hgvs_p": "p.Pro415Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612951.1",
"strand": true,
"transcript": "ENST00000942892.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 466,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942901.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612960.1",
"strand": true,
"transcript": "ENST00000942901.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 465,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382712.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369641.1",
"strand": true,
"transcript": "NM_001382712.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868990.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1237_1239delCCCinsTCG",
"hgvs_p": "p.Pro413Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539049.1",
"strand": true,
"transcript": "ENST00000868990.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942893.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1237_1239delCCCinsTCG",
"hgvs_p": "p.Pro413Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612952.1",
"strand": true,
"transcript": "ENST00000942893.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "P",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1234,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382711.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1234_1236delCCCinsTCG",
"hgvs_p": "p.Pro412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369640.1",
"strand": true,
"transcript": "NM_001382711.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "P",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1234,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868998.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1234_1236delCCCinsTCG",
"hgvs_p": "p.Pro412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539057.1",
"strand": true,
"transcript": "ENST00000868998.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1392,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942891.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612950.1",
"strand": true,
"transcript": "ENST00000942891.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 462,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942894.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612953.1",
"strand": true,
"transcript": "ENST00000942894.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "P",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942905.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1204_1206delCCCinsTCG",
"hgvs_p": "p.Pro402Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612964.1",
"strand": true,
"transcript": "ENST00000942905.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869001.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1255_1257delCCCinsTCG",
"hgvs_p": "p.Pro419Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539060.1",
"strand": true,
"transcript": "ENST00000869001.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 447,
"aa_ref": "P",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382710.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1186_1188delCCCinsTCG",
"hgvs_p": "p.Pro396Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369639.1",
"strand": true,
"transcript": "NM_001382710.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "P",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942904.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1174_1176delCCCinsTCG",
"hgvs_p": "p.Pro392Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612963.1",
"strand": true,
"transcript": "ENST00000942904.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 440,
"aa_ref": "P",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942900.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1165_1167delCCCinsTCG",
"hgvs_p": "p.Pro389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612959.1",
"strand": true,
"transcript": "ENST00000942900.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 438,
"aa_ref": "P",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1159,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868991.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1159_1161delCCCinsTCG",
"hgvs_p": "p.Pro387Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539050.1",
"strand": true,
"transcript": "ENST00000868991.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 428,
"aa_ref": "P",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942897.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1129_1131delCCCinsTCG",
"hgvs_p": "p.Pro377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612956.1",
"strand": true,
"transcript": "ENST00000942897.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 422,
"aa_ref": "P",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868995.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1111_1113delCCCinsTCG",
"hgvs_p": "p.Pro371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539054.1",
"strand": true,
"transcript": "ENST00000868995.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 400,
"aa_ref": "P",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942899.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1045_1047delCCCinsTCG",
"hgvs_p": "p.Pro349Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612958.1",
"strand": true,
"transcript": "ENST00000942899.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 396,
"aa_ref": "P",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868994.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.1033_1035delCCCinsTCG",
"hgvs_p": "p.Pro345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539053.1",
"strand": true,
"transcript": "ENST00000868994.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 380,
"aa_ref": "P",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1143,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382713.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.985_987delCCCinsTCG",
"hgvs_p": "p.Pro329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369642.1",
"strand": true,
"transcript": "NM_001382713.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 368,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1107,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942896.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.949_951delCCCinsTCG",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612955.1",
"strand": true,
"transcript": "ENST00000942896.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "P",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1035,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942895.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.877_879delCCCinsTCG",
"hgvs_p": "p.Pro293Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612954.1",
"strand": true,
"transcript": "ENST00000942895.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 343,
"aa_ref": "P",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1032,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869002.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.874_876delCCCinsTCG",
"hgvs_p": "p.Pro292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539061.1",
"strand": true,
"transcript": "ENST00000869002.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 909,
"cds_end": null,
"cds_length": 981,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382709.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.823_825delCCCinsTCG",
"hgvs_p": "p.Pro275Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369638.1",
"strand": true,
"transcript": "NM_001382709.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 157,
"aa_ref": "P",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 402,
"cds_end": null,
"cds_length": 474,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942902.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "c.316_318delCCCinsTCG",
"hgvs_p": "p.Pro106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612961.1",
"strand": true,
"transcript": "ENST00000942902.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000477226.6",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "n.729_731delCCCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000477226.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 706,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000492726.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "n.650_652delCCCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000492726.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000683013.1",
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"hgvs_c": "n.643_645delCCCinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683013.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2770,
"gene_symbol": "DES",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.651,
"pos": 219423787,
"ref": "CCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001927.4"
}
]
}