← 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: 15-89305237-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89305237&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89305237,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001113378.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "NM_001113378.2",
"protein_id": "NP_001106849.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "ENST00000310775.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "ENST00000310775.12",
"protein_id": "ENSP00000310842.8",
"transcript_support_level": 1,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": "NM_001113378.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "ENST00000674831.1",
"protein_id": "ENSP00000502474.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3181,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3289,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "NM_001376911.1",
"protein_id": "NP_001363840.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "ENST00000696719.1",
"protein_id": "ENSP00000512832.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "ENST00000676003.1",
"protein_id": "ENSP00000502254.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "NM_018193.3",
"protein_id": "NP_060663.2",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3075,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "ENST00000300027.12",
"protein_id": "ENSP00000300027.8",
"transcript_support_level": 5,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3105,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2902G>C",
"hgvs_p": "p.Asp968His",
"transcript": "NM_001376910.1",
"protein_id": "NP_001363839.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3261,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2902G>C",
"hgvs_p": "p.Asp968His",
"transcript": "ENST00000696717.1",
"protein_id": "ENSP00000512830.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2644G>C",
"hgvs_p": "p.Asp882His",
"transcript": "ENST00000696718.1",
"protein_id": "ENSP00000512831.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2479G>C",
"hgvs_p": "p.Asp827His",
"transcript": "ENST00000561894.1",
"protein_id": "ENSP00000455189.1",
"transcript_support_level": 2,
"aa_start": 827,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2479,
"cds_end": null,
"cds_length": 3267,
"cdna_start": 2480,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_011521756.3",
"protein_id": "XP_011520058.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3289,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432789.1",
"protein_id": "XP_047288745.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 6139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432790.1",
"protein_id": "XP_047288746.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3373,
"cdna_end": null,
"cdna_length": 4979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432791.1",
"protein_id": "XP_047288747.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432792.1",
"protein_id": "XP_047288748.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432793.1",
"protein_id": "XP_047288749.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 5071,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432794.1",
"protein_id": "XP_047288750.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432795.1",
"protein_id": "XP_047288751.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3391,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432796.1",
"protein_id": "XP_047288752.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3368,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432797.1",
"protein_id": "XP_047288753.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3414,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432798.1",
"protein_id": "XP_047288754.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432799.1",
"protein_id": "XP_047288755.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3499,
"cdna_end": null,
"cdna_length": 5105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432800.1",
"protein_id": "XP_047288756.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3522,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His",
"transcript": "XM_047432801.1",
"protein_id": "XP_047288757.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3181,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432802.1",
"protein_id": "XP_047288758.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432803.1",
"protein_id": "XP_047288759.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3213,
"cdna_end": null,
"cdna_length": 4819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432804.1",
"protein_id": "XP_047288760.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3224,
"cdna_end": null,
"cdna_length": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432805.1",
"protein_id": "XP_047288761.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 5029,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432806.1",
"protein_id": "XP_047288762.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 4491,
"cdna_end": null,
"cdna_length": 6097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432807.1",
"protein_id": "XP_047288763.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3297,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432808.1",
"protein_id": "XP_047288764.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432809.1",
"protein_id": "XP_047288765.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432810.1",
"protein_id": "XP_047288766.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3315,
"cdna_end": null,
"cdna_length": 4921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432811.1",
"protein_id": "XP_047288767.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3139G>C",
"hgvs_p": "p.Asp1047His",
"transcript": "XM_047432812.1",
"protein_id": "XP_047288768.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 3326,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_011521764.3",
"protein_id": "XP_011520066.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3109,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432813.1",
"protein_id": "XP_047288769.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3086,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432814.1",
"protein_id": "XP_047288770.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3211,
"cdna_end": null,
"cdna_length": 4817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432815.1",
"protein_id": "XP_047288771.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 4353,
"cdna_end": null,
"cdna_length": 5959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432816.1",
"protein_id": "XP_047288772.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3193,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432817.1",
"protein_id": "XP_047288773.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3159,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432818.1",
"protein_id": "XP_047288774.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3188,
"cdna_end": null,
"cdna_length": 4794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432819.1",
"protein_id": "XP_047288775.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432820.1",
"protein_id": "XP_047288776.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3177,
"cdna_end": null,
"cdna_length": 4783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432821.1",
"protein_id": "XP_047288777.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 4891,
"cdna_end": null,
"cdna_length": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Asp1001His",
"transcript": "XM_047432822.1",
"protein_id": "XP_047288778.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432823.1",
"protein_id": "XP_047288779.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432824.1",
"protein_id": "XP_047288780.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2944,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432825.1",
"protein_id": "XP_047288781.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2921,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432826.1",
"protein_id": "XP_047288782.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 4188,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432827.1",
"protein_id": "XP_047288783.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3157,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432828.1",
"protein_id": "XP_047288784.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3046,
"cdna_end": null,
"cdna_length": 4652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432829.1",
"protein_id": "XP_047288785.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432830.1",
"protein_id": "XP_047288786.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 4726,
"cdna_end": null,
"cdna_length": 6332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432831.1",
"protein_id": "XP_047288787.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432832.1",
"protein_id": "XP_047288788.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Asp946His",
"transcript": "XM_047432833.1",
"protein_id": "XP_047288789.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1213,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 3023,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "n.3001G>C",
"hgvs_p": null,
"transcript": "ENST00000447611.6",
"protein_id": "ENSP00000413249.2",
"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": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "n.3188G>C",
"hgvs_p": null,
"transcript": "ENST00000566895.5",
"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": 4663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "n.4766G>C",
"hgvs_p": null,
"transcript": "ENST00000696721.1",
"protein_id": null,
"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": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLG",
"gene_hgnc_id": 9179,
"hgvs_c": "c.*46-13C>G",
"hgvs_p": null,
"transcript": "ENST00000635831.1",
"protein_id": "ENSP00000490231.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 8,
"cds_start": -4,
"cds_end": null,
"cds_length": 27,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"hgvs_c": "n.130-7667G>C",
"hgvs_p": null,
"transcript": "ENST00000565522.5",
"protein_id": null,
"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": 233,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903548",
"gene_hgnc_id": null,
"hgvs_c": "n.-67C>G",
"hgvs_p": null,
"transcript": "XR_007064749.1",
"protein_id": null,
"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": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FANCI",
"gene_hgnc_id": 25568,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8791098594665527,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.693,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3341,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.964,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001113378.2",
"gene_symbol": "FANCI",
"hgnc_id": 25568,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3181G>C",
"hgvs_p": "p.Asp1061His"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000635831.1",
"gene_symbol": "POLG",
"hgnc_id": 9179,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*46-13C>G",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007064749.1",
"gene_symbol": "LOC124903548",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-67C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Fanconi anemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Fanconi anemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}