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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: 9-96013177-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=96013177&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 96013177,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020207.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4627G>A",
"hgvs_p": "p.Ala1543Thr",
"transcript": "NM_020207.7",
"protein_id": "NP_064592.3",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1550,
"cds_start": 4627,
"cds_end": null,
"cds_length": 4653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000653738.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020207.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4627G>A",
"hgvs_p": "p.Ala1543Thr",
"transcript": "ENST00000653738.2",
"protein_id": "ENSP00000499221.2",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 1550,
"cds_start": 4627,
"cds_end": null,
"cds_length": 4653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020207.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000653738.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*3809G>A",
"hgvs_p": null,
"transcript": "ENST00000456993.7",
"protein_id": "ENSP00000409751.2",
"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": "ENST00000456993.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*3809G>A",
"hgvs_p": null,
"transcript": "ENST00000456993.7",
"protein_id": "ENSP00000409751.2",
"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": "ENST00000456993.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4660G>A",
"hgvs_p": "p.Ala1554Thr",
"transcript": "ENST00000715566.1",
"protein_id": "ENSP00000520479.1",
"transcript_support_level": null,
"aa_start": 1554,
"aa_end": null,
"aa_length": 1561,
"cds_start": 4660,
"cds_end": null,
"cds_length": 4686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715566.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4618G>A",
"hgvs_p": "p.Ala1540Thr",
"transcript": "ENST00000922957.1",
"protein_id": "ENSP00000593016.1",
"transcript_support_level": null,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1547,
"cds_start": 4618,
"cds_end": null,
"cds_length": 4644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922957.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4582G>A",
"hgvs_p": "p.Ala1528Thr",
"transcript": "ENST00000683937.1",
"protein_id": "ENSP00000507442.1",
"transcript_support_level": null,
"aa_start": 1528,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4582,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683937.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4504G>A",
"hgvs_p": "p.Ala1502Thr",
"transcript": "ENST00000922956.1",
"protein_id": "ENSP00000593015.1",
"transcript_support_level": null,
"aa_start": 1502,
"aa_end": null,
"aa_length": 1509,
"cds_start": 4504,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922956.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.3625G>A",
"hgvs_p": "p.Ala1209Thr",
"transcript": "ENST00000957783.1",
"protein_id": "ENSP00000627842.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3625,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957783.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.4507G>A",
"hgvs_p": "p.Ala1503Thr",
"transcript": "XM_011518641.4",
"protein_id": "XP_011516943.1",
"transcript_support_level": null,
"aa_start": 1503,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4507,
"cds_end": null,
"cds_length": 4533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518641.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Ala1256Thr",
"transcript": "XM_047423356.1",
"protein_id": "XP_047279312.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3766,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423356.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.2995G>A",
"hgvs_p": "p.Ala999Thr",
"transcript": "XM_011518648.4",
"protein_id": "XP_011516950.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518648.4"
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.3674+8476G>A",
"hgvs_p": null,
"transcript": "NM_001375291.1",
"protein_id": "NP_001362220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": null,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375291.1"
},
{
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.3674+8476G>A",
"hgvs_p": null,
"transcript": "NM_001375292.1",
"protein_id": "NP_001362221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": null,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375292.1"
},
{
"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": 17,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "c.3554+8476G>A",
"hgvs_p": null,
"transcript": "XM_047423357.1",
"protein_id": "XP_047279313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": null,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423357.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*3110G>A",
"hgvs_p": null,
"transcript": "ENST00000653324.2",
"protein_id": "ENSP00000499453.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000653324.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*1285G>A",
"hgvs_p": null,
"transcript": "ENST00000659728.1",
"protein_id": "ENSP00000499575.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000659728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*2691G>A",
"hgvs_p": null,
"transcript": "ENST00000661047.1",
"protein_id": "ENSP00000499236.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000661047.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.4627G>A",
"hgvs_p": null,
"transcript": "ENST00000682983.1",
"protein_id": "ENSP00000507518.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000682983.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.*1245G>A",
"hgvs_p": null,
"transcript": "ENST00000683128.1",
"protein_id": "ENSP00000508232.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000683128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.6435G>A",
"hgvs_p": null,
"transcript": "ENST00000683176.1",
"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": "retained_intron",
"feature": "ENST00000683176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"hgvs_c": "n.6240G>A",
"hgvs_p": null,
"transcript": "ENST00000683227.1",
"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,
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{
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{
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"exon_count": 21,
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{
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"exon_count": 20,
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{
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{
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{
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"intron_variant"
],
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"gene_symbol": "ERCC6L2",
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"hgvs_c": "n.*1503+8476G>A",
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"transcript": "ENST00000670016.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000670016.1"
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],
"gene_symbol": "ERCC6L2",
"gene_hgnc_id": 26922,
"dbsnp": "rs10512243",
"frequency_reference_population": 0.09112509,
"hom_count_reference_population": 6279,
"allele_count_reference_population": 124338,
"gnomad_exomes_af": 0.0915297,
"gnomad_genomes_af": 0.0879013,
"gnomad_exomes_ac": 110964,
"gnomad_genomes_ac": 13374,
"gnomad_exomes_homalt": 5611,
"gnomad_genomes_homalt": 668,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04500000178813934,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.125,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020207.7",
"gene_symbol": "ERCC6L2",
"hgnc_id": 26922,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4627G>A",
"hgvs_p": "p.Ala1543Thr"
}
],
"clinvar_disease": "Pancytopenia-developmental delay syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided|Pancytopenia-developmental delay syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}