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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: 1-206595782-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206595782&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 206595782,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006893.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1445T>C",
"hgvs_p": "p.Ile482Thr",
"transcript": "NM_006893.3",
"protein_id": "NP_008824.2",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 584,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000271764.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006893.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1445T>C",
"hgvs_p": "p.Ile482Thr",
"transcript": "ENST00000271764.7",
"protein_id": "ENSP00000271764.2",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 584,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006893.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271764.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Ile358Thr",
"transcript": "ENST00000367114.7",
"protein_id": "ENSP00000356081.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 460,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367114.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "n.3482T>C",
"hgvs_p": null,
"transcript": "ENST00000617960.4",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000617960.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1484T>C",
"hgvs_p": "p.Ile495Thr",
"transcript": "ENST00000955147.1",
"protein_id": "ENSP00000625206.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 597,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955147.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1472T>C",
"hgvs_p": "p.Ile491Thr",
"transcript": "ENST00000955145.1",
"protein_id": "ENSP00000625204.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 593,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955145.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1469T>C",
"hgvs_p": "p.Ile490Thr",
"transcript": "ENST00000955149.1",
"protein_id": "ENSP00000625208.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 592,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955149.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1442T>C",
"hgvs_p": "p.Ile481Thr",
"transcript": "ENST00000910994.1",
"protein_id": "ENSP00000581053.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 583,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910994.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1427T>C",
"hgvs_p": "p.Ile476Thr",
"transcript": "ENST00000955146.1",
"protein_id": "ENSP00000625205.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 578,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955146.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1445T>C",
"hgvs_p": "p.Ile482Thr",
"transcript": "ENST00000937104.1",
"protein_id": "ENSP00000607163.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 562,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937104.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Ile450Thr",
"transcript": "ENST00000937103.1",
"protein_id": "ENSP00000607162.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 552,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937103.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1337T>C",
"hgvs_p": "p.Ile446Thr",
"transcript": "ENST00000910995.1",
"protein_id": "ENSP00000581054.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 548,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910995.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Ile432Thr",
"transcript": "ENST00000910991.1",
"protein_id": "ENSP00000581050.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 534,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910991.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1292T>C",
"hgvs_p": "p.Ile431Thr",
"transcript": "ENST00000955150.1",
"protein_id": "ENSP00000625209.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 533,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955150.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1187T>C",
"hgvs_p": "p.Ile396Thr",
"transcript": "ENST00000955148.1",
"protein_id": "ENSP00000625207.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 498,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955148.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Ile358Thr",
"transcript": "NM_001201478.2",
"protein_id": "NP_001188407.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 460,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201478.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.965T>C",
"hgvs_p": "p.Ile322Thr",
"transcript": "ENST00000910992.1",
"protein_id": "ENSP00000581051.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 424,
"cds_start": 965,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910992.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Ile308Thr",
"transcript": "ENST00000910993.1",
"protein_id": "ENSP00000581052.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 410,
"cds_start": 923,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910993.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Ile272Thr",
"transcript": "ENST00000910996.1",
"protein_id": "ENSP00000581055.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 374,
"cds_start": 815,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910996.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1445T>C",
"hgvs_p": "p.Ile482Thr",
"transcript": "XM_011509257.3",
"protein_id": "XP_011507559.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 581,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509257.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.1295T>C",
"hgvs_p": "p.Ile432Thr",
"transcript": "XM_005277509.4",
"protein_id": "XP_005277566.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 534,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005277509.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Ile332Thr",
"transcript": "XM_006711196.4",
"protein_id": "XP_006711259.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 434,
"cds_start": 995,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711196.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 12,
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"feature": "XM_017000531.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "EIF2D",
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"feature": "ENST00000472709.6"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "EIF2D",
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"transcript": "ENST00000484492.5",
"protein_id": "ENSP00000479327.1",
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"cds_end": null,
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"cdna_end": null,
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"mane_select": null,
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"feature": "ENST00000484492.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "EIF2D",
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"transcript": "ENST00000613435.1",
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"feature": "ENST00000613435.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 16,
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"gene_symbol": "EIF2D",
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"transcript": "XR_001737023.3",
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"biotype": "pseudogene",
"feature": "XR_001737023.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"gene_symbol": "EIF2D",
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"feature": "ENST00000484492.5"
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{
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"protein_coding": false,
"strand": false,
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],
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"exon_count": 6,
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"gene_symbol": "EIF2D",
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"protein_id": "ENSP00000484590.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000613435.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"hgvs_c": "n.*49T>C",
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"transcript": "ENST00000468891.2",
"protein_id": null,
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000468891.2"
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],
"gene_symbol": "EIF2D",
"gene_hgnc_id": 6583,
"dbsnp": "rs1279927343",
"frequency_reference_population": 0.0000024782503,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": 0.00000657186,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21554788947105408,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.0722,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.984,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006893.3",
"gene_symbol": "EIF2D",
"hgnc_id": 6583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1445T>C",
"hgvs_p": "p.Ile482Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}