← 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: 19-45420395-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45420395&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45420395,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000300853.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001983.4",
"protein_id": "NP_001974.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 297,
"cds_start": 354,
"cds_end": null,
"cds_length": 894,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "ENST00000300853.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000300853.8",
"protein_id": "ENSP00000300853.3",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 297,
"cds_start": 354,
"cds_end": null,
"cds_length": 894,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": "NM_001983.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000013807.9",
"protein_id": "ENSP00000013807.4",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 323,
"cds_start": 354,
"cds_end": null,
"cds_length": 972,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000340192.11",
"protein_id": "ENSP00000345203.6",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 273,
"cds_start": 354,
"cds_end": null,
"cds_length": 822,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369408.1",
"protein_id": "NP_001356337.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 323,
"cds_start": 354,
"cds_end": null,
"cds_length": 972,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369409.1",
"protein_id": "NP_001356338.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 323,
"cds_start": 354,
"cds_end": null,
"cds_length": 972,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_202001.3",
"protein_id": "NP_973730.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 323,
"cds_start": 354,
"cds_end": null,
"cds_length": 972,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369410.1",
"protein_id": "NP_001356339.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 299,
"cds_start": 354,
"cds_end": null,
"cds_length": 900,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369411.1",
"protein_id": "NP_001356340.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 299,
"cds_start": 354,
"cds_end": null,
"cds_length": 900,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369412.1",
"protein_id": "NP_001356341.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 297,
"cds_start": 354,
"cds_end": null,
"cds_length": 894,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369413.1",
"protein_id": "NP_001356342.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 297,
"cds_start": 354,
"cds_end": null,
"cds_length": 894,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369414.1",
"protein_id": "NP_001356343.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 297,
"cds_start": 354,
"cds_end": null,
"cds_length": 894,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369415.1",
"protein_id": "NP_001356344.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 297,
"cds_start": 354,
"cds_end": null,
"cds_length": 894,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369416.1",
"protein_id": "NP_001356345.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 297,
"cds_start": 354,
"cds_end": null,
"cds_length": 894,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000589165.5",
"protein_id": "ENSP00000468035.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 297,
"cds_start": 354,
"cds_end": null,
"cds_length": 894,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001166049.2",
"protein_id": "NP_001159521.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 273,
"cds_start": 354,
"cds_end": null,
"cds_length": 822,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369417.1",
"protein_id": "NP_001356346.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 273,
"cds_start": 354,
"cds_end": null,
"cds_length": 822,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369418.1",
"protein_id": "NP_001356347.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 273,
"cds_start": 354,
"cds_end": null,
"cds_length": 822,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "NM_001369419.1",
"protein_id": "NP_001356348.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 273,
"cds_start": 354,
"cds_end": null,
"cds_length": 822,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000592083.5",
"protein_id": "ENSP00000467183.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 257,
"cds_start": 354,
"cds_end": null,
"cds_length": 774,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000592023.5",
"protein_id": "ENSP00000468158.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 233,
"cds_start": 354,
"cds_end": null,
"cds_length": 702,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.138T>C",
"hgvs_p": "p.Asn46Asn",
"transcript": "ENST00000423698.6",
"protein_id": "ENSP00000394875.2",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 225,
"cds_start": 138,
"cds_end": null,
"cds_length": 678,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000591636.5",
"protein_id": "ENSP00000468119.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 213,
"cds_start": 354,
"cds_end": null,
"cds_length": 642,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.138T>C",
"hgvs_p": "p.Asn46Asn",
"transcript": "ENST00000589381.5",
"protein_id": "ENSP00000468548.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 208,
"cds_start": 138,
"cds_end": null,
"cds_length": 627,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn",
"transcript": "ENST00000589214.1",
"protein_id": "ENSP00000465524.1",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 140,
"cds_start": 354,
"cds_end": null,
"cds_length": 425,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "n.477T>C",
"hgvs_p": null,
"transcript": "ENST00000588300.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "n.411T>C",
"hgvs_p": null,
"transcript": "ENST00000592905.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "n.321+783T>C",
"hgvs_p": null,
"transcript": "ENST00000710953.1",
"protein_id": "ENSP00000518553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"hgvs_c": "n.-13T>C",
"hgvs_p": null,
"transcript": "ENST00000587888.5",
"protein_id": "ENSP00000465225.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERCC1",
"gene_hgnc_id": 3433,
"dbsnp": "rs11615",
"frequency_reference_population": 0.42816138,
"hom_count_reference_population": 163063,
"allele_count_reference_population": 690066,
"gnomad_exomes_af": 0.415191,
"gnomad_genomes_af": 0.552757,
"gnomad_exomes_ac": 606069,
"gnomad_genomes_ac": 83997,
"gnomad_exomes_homalt": 136082,
"gnomad_genomes_homalt": 26981,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.629,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000300853.8",
"gene_symbol": "ERCC1",
"hgnc_id": 3433,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.354T>C",
"hgvs_p": "p.Asn118Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}