← 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: 18-36159990-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36159990&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 36159990,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001242875.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "NM_018255.4",
"protein_id": "NP_060725.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 826,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358232.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018255.4"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000358232.11",
"protein_id": "ENSP00000350967.6",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 826,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018255.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358232.11"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1453A>C",
"hgvs_p": "p.Thr485Pro",
"transcript": "ENST00000423854.6",
"protein_id": "ENSP00000391202.2",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 756,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423854.6"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1453A>C",
"hgvs_p": "p.Thr485Pro",
"transcript": "ENST00000542824.5",
"protein_id": "ENSP00000443800.1",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 756,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542824.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1663A>C",
"hgvs_p": null,
"transcript": "ENST00000539560.5",
"protein_id": "ENSP00000443555.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000539560.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1879A>C",
"hgvs_p": "p.Thr627Pro",
"transcript": "ENST00000867817.1",
"protein_id": "ENSP00000537876.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 898,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867817.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Thr620Pro",
"transcript": "NM_001242875.3",
"protein_id": "NP_001229804.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 891,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242875.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Thr620Pro",
"transcript": "ENST00000442325.6",
"protein_id": "ENSP00000414851.2",
"transcript_support_level": 2,
"aa_start": 620,
"aa_end": null,
"aa_length": 891,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442325.6"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Thr620Pro",
"transcript": "ENST00000867807.1",
"protein_id": "ENSP00000537866.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 889,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867807.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1840A>C",
"hgvs_p": "p.Thr614Pro",
"transcript": "ENST00000965732.1",
"protein_id": "ENSP00000635791.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 885,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965732.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1780A>C",
"hgvs_p": "p.Thr594Pro",
"transcript": "NM_001324466.2",
"protein_id": "NP_001311395.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 865,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324466.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1780A>C",
"hgvs_p": "p.Thr594Pro",
"transcript": "ENST00000867812.1",
"protein_id": "ENSP00000537871.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 865,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867812.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1744A>C",
"hgvs_p": "p.Thr582Pro",
"transcript": "ENST00000965733.1",
"protein_id": "ENSP00000635792.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 853,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965733.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Thr576Pro",
"transcript": "ENST00000867816.1",
"protein_id": "ENSP00000537875.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 847,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867816.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1726A>C",
"hgvs_p": "p.Thr576Pro",
"transcript": "ENST00000867822.1",
"protein_id": "ENSP00000537881.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 847,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867822.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000965728.1",
"protein_id": "ENSP00000635787.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 845,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965728.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1708A>C",
"hgvs_p": "p.Thr570Pro",
"transcript": "ENST00000867805.1",
"protein_id": "ENSP00000537864.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 841,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867805.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1684A>C",
"hgvs_p": "p.Thr562Pro",
"transcript": "ENST00000939573.1",
"protein_id": "ENSP00000609632.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 833,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939573.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Thr620Pro",
"transcript": "ENST00000867821.1",
"protein_id": "ENSP00000537880.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 829,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867821.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000867806.1",
"protein_id": "ENSP00000537865.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 824,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867806.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1657A>C",
"hgvs_p": "p.Thr553Pro",
"transcript": "ENST00000867814.1",
"protein_id": "ENSP00000537873.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 824,
"cds_start": 1657,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867814.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1654A>C",
"hgvs_p": "p.Thr552Pro",
"transcript": "ENST00000867815.1",
"protein_id": "ENSP00000537874.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 823,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867815.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1648A>C",
"hgvs_p": "p.Thr550Pro",
"transcript": "NM_001242876.3",
"protein_id": "NP_001229805.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 821,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242876.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1648A>C",
"hgvs_p": "p.Thr550Pro",
"transcript": "ENST00000350494.10",
"protein_id": "ENSP00000316051.6",
"transcript_support_level": 2,
"aa_start": 550,
"aa_end": null,
"aa_length": 821,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350494.10"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000965731.1",
"protein_id": "ENSP00000635790.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 807,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965731.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000867810.1",
"protein_id": "ENSP00000537869.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 806,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867810.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Thr620Pro",
"transcript": "ENST00000939570.1",
"protein_id": "ENSP00000609629.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 801,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939570.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1585A>C",
"hgvs_p": "p.Thr529Pro",
"transcript": "NM_001242877.3",
"protein_id": "NP_001229806.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 800,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242877.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1585A>C",
"hgvs_p": "p.Thr529Pro",
"transcript": "ENST00000351393.10",
"protein_id": "ENSP00000257191.7",
"transcript_support_level": 2,
"aa_start": 529,
"aa_end": null,
"aa_length": 800,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351393.10"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1585A>C",
"hgvs_p": "p.Thr529Pro",
"transcript": "ENST00000867808.1",
"protein_id": "ENSP00000537867.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 798,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867808.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1579A>C",
"hgvs_p": "p.Thr527Pro",
"transcript": "ENST00000965727.1",
"protein_id": "ENSP00000635786.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 798,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965727.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000867811.1",
"protein_id": "ENSP00000537870.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 788,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867811.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1531A>C",
"hgvs_p": "p.Thr511Pro",
"transcript": "NM_001324465.2",
"protein_id": "NP_001311394.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 782,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324465.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1531A>C",
"hgvs_p": "p.Thr511Pro",
"transcript": "ENST00000867804.1",
"protein_id": "ENSP00000537863.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 782,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867804.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1531A>C",
"hgvs_p": "p.Thr511Pro",
"transcript": "ENST00000867813.1",
"protein_id": "ENSP00000537872.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 782,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867813.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1522A>C",
"hgvs_p": "p.Thr508Pro",
"transcript": "ENST00000867820.1",
"protein_id": "ENSP00000537879.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 779,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867820.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1513A>C",
"hgvs_p": "p.Thr505Pro",
"transcript": "NM_001324467.2",
"protein_id": "NP_001311396.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 776,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324467.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1513A>C",
"hgvs_p": "p.Thr505Pro",
"transcript": "ENST00000867809.1",
"protein_id": "ENSP00000537868.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 776,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867809.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000939564.1",
"protein_id": "ENSP00000609623.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 764,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939564.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000939565.1",
"protein_id": "ENSP00000609624.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 763,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939565.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1453A>C",
"hgvs_p": "p.Thr485Pro",
"transcript": "NM_001242878.3",
"protein_id": "NP_001229807.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 756,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242878.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1453A>C",
"hgvs_p": "p.Thr485Pro",
"transcript": "NM_001242879.3",
"protein_id": "NP_001229808.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 756,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242879.3"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000939568.1",
"protein_id": "ENSP00000609627.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 738,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939568.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000939562.1",
"protein_id": "ENSP00000609621.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 736,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939562.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000939566.1",
"protein_id": "ENSP00000609625.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 721,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939566.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000939571.1",
"protein_id": "ENSP00000609630.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 720,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939571.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1531A>C",
"hgvs_p": "p.Thr511Pro",
"transcript": "ENST00000939576.1",
"protein_id": "ENSP00000609635.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 719,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939576.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000939567.1",
"protein_id": "ENSP00000609626.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 717,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939567.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1321A>C",
"hgvs_p": "p.Thr441Pro",
"transcript": "ENST00000939574.1",
"protein_id": "ENSP00000609633.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 712,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939574.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1321A>C",
"hgvs_p": "p.Thr441Pro",
"transcript": "ENST00000965730.1",
"protein_id": "ENSP00000635789.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 712,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965730.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1585A>C",
"hgvs_p": "p.Thr529Pro",
"transcript": "ENST00000939563.1",
"protein_id": "ENSP00000609622.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 710,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939563.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1312A>C",
"hgvs_p": "p.Thr438Pro",
"transcript": "ENST00000867819.1",
"protein_id": "ENSP00000537878.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 709,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867819.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1216A>C",
"hgvs_p": "p.Thr406Pro",
"transcript": "NM_001324468.2",
"protein_id": "NP_001311397.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 677,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324468.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Thr555Pro",
"transcript": "ENST00000939569.1",
"protein_id": "ENSP00000609628.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 652,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939569.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1126A>C",
"hgvs_p": "p.Thr376Pro",
"transcript": "ENST00000867818.1",
"protein_id": "ENSP00000537877.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 647,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867818.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1531A>C",
"hgvs_p": "p.Thr511Pro",
"transcript": "ENST00000965729.1",
"protein_id": "ENSP00000635788.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 608,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965729.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1126A>C",
"hgvs_p": "p.Thr376Pro",
"transcript": "ENST00000939575.1",
"protein_id": "ENSP00000609634.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 557,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939575.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Thr620Pro",
"transcript": "XM_047437610.1",
"protein_id": "XP_047293566.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 777,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1630+160A>C",
"hgvs_p": null,
"transcript": "ENST00000965734.1",
"protein_id": "ENSP00000635793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965734.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1535-942A>C",
"hgvs_p": null,
"transcript": "ENST00000939572.1",
"protein_id": "ENSP00000609631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": null,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939572.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "c.1534+1086A>C",
"hgvs_p": null,
"transcript": "ENST00000965735.1",
"protein_id": "ENSP00000635794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": null,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.106A>C",
"hgvs_p": null,
"transcript": "ENST00000540766.5",
"protein_id": "ENSP00000440651.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540766.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.34A>C",
"hgvs_p": null,
"transcript": "ENST00000541294.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000541294.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.311A>C",
"hgvs_p": null,
"transcript": "ENST00000543861.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000543861.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1698A>C",
"hgvs_p": null,
"transcript": "NR_040110.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_040110.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1631A>C",
"hgvs_p": null,
"transcript": "NR_136897.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136897.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1698A>C",
"hgvs_p": null,
"transcript": "NR_136898.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136898.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.1698A>C",
"hgvs_p": null,
"transcript": "NR_137173.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_137173.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.289-942A>C",
"hgvs_p": null,
"transcript": "ENST00000540799.1",
"protein_id": "ENSP00000468091.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"hgvs_c": "n.424+160A>C",
"hgvs_p": null,
"transcript": "ENST00000542050.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000542050.5"
}
],
"gene_symbol": "ELP2",
"gene_hgnc_id": 18248,
"dbsnp": "rs772450541",
"frequency_reference_population": 6.841115e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84112e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8813929557800293,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.713,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9521,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.812,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001242875.3",
"gene_symbol": "ELP2",
"hgnc_id": 18248,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1858A>C",
"hgvs_p": "p.Thr620Pro"
}
],
"clinvar_disease": " autosomal recessive 58,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal recessive 58",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}