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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: 2-58162923-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=58162923&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 58162923,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001438889.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.846A>G",
"hgvs_p": "p.Gln282Gln",
"transcript": "NM_018062.4",
"protein_id": "NP_060532.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 375,
"cds_start": 846,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233741.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018062.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.846A>G",
"hgvs_p": "p.Gln282Gln",
"transcript": "ENST00000233741.9",
"protein_id": "ENSP00000233741.5",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 375,
"cds_start": 846,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018062.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233741.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.762A>G",
"hgvs_p": "p.Gln254Gln",
"transcript": "ENST00000403295.8",
"protein_id": "ENSP00000386097.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 347,
"cds_start": 762,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403295.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.669A>G",
"hgvs_p": "p.Gln223Gln",
"transcript": "ENST00000449070.6",
"protein_id": "ENSP00000401280.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 316,
"cds_start": 669,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449070.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Gln297Gln",
"transcript": "NM_001438889.1",
"protein_id": "NP_001425818.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 398,
"cds_start": 891,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438889.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.906A>G",
"hgvs_p": "p.Gln302Gln",
"transcript": "NM_001410792.1",
"protein_id": "NP_001397721.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 395,
"cds_start": 906,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410792.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.906A>G",
"hgvs_p": "p.Gln302Gln",
"transcript": "ENST00000696326.1",
"protein_id": "ENSP00000512562.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 395,
"cds_start": 906,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696326.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Gln297Gln",
"transcript": "NM_001374615.1",
"protein_id": "NP_001361544.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 390,
"cds_start": 891,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374615.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Gln297Gln",
"transcript": "ENST00000427708.7",
"protein_id": "ENSP00000400969.3",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 390,
"cds_start": 891,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427708.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Gln287Gln",
"transcript": "NM_001438890.1",
"protein_id": "NP_001425819.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 388,
"cds_start": 861,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438890.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.846A>G",
"hgvs_p": "p.Gln282Gln",
"transcript": "NM_001438891.1",
"protein_id": "NP_001425820.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 383,
"cds_start": 846,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438891.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Gln287Gln",
"transcript": "NM_001114636.2",
"protein_id": "NP_001108108.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 380,
"cds_start": 861,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114636.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.861A>G",
"hgvs_p": "p.Gln287Gln",
"transcript": "ENST00000402135.8",
"protein_id": "ENSP00000385021.3",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 380,
"cds_start": 861,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402135.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.837A>G",
"hgvs_p": "p.Gln279Gln",
"transcript": "ENST00000696371.1",
"protein_id": "ENSP00000512586.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 372,
"cds_start": 837,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696371.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.834A>G",
"hgvs_p": "p.Gln278Gln",
"transcript": "ENST00000696547.1",
"protein_id": "ENSP00000512707.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 371,
"cds_start": 834,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696547.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.831A>G",
"hgvs_p": "p.Gln277Gln",
"transcript": "ENST00000696307.1",
"protein_id": "ENSP00000512545.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 370,
"cds_start": 831,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696307.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.822A>G",
"hgvs_p": "p.Gln274Gln",
"transcript": "ENST00000696635.1",
"protein_id": "ENSP00000512771.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 367,
"cds_start": 822,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696635.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.807A>G",
"hgvs_p": "p.Gln269Gln",
"transcript": "ENST00000909682.1",
"protein_id": "ENSP00000579741.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 362,
"cds_start": 807,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909682.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.804A>G",
"hgvs_p": "p.Gln268Gln",
"transcript": "ENST00000696319.1",
"protein_id": "ENSP00000512557.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 361,
"cds_start": 804,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696319.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.789A>G",
"hgvs_p": "p.Gln263Gln",
"transcript": "ENST00000696305.1",
"protein_id": "ENSP00000512543.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 356,
"cds_start": 789,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696305.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.777A>G",
"hgvs_p": "p.Gln259Gln",
"transcript": "ENST00000696624.1",
"protein_id": "ENSP00000512761.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 352,
"cds_start": 777,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696624.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.846A>G",
"hgvs_p": "p.Gln282Gln",
"transcript": "ENST00000696316.1",
"protein_id": "ENSP00000512554.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 336,
"cds_start": 846,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
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"gene_symbol": "FANCL",
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"hgvs_c": "n.*225+511A>G",
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"transcript": "ENST00000696570.1",
"protein_id": "ENSP00000512725.1",
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"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696570.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
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"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "n.802+511A>G",
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"transcript": "NR_164659.2",
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"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164659.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "FANCL",
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"hgvs_c": "n.902+511A>G",
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"transcript": "XR_007077528.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007077528.1"
}
],
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"dbsnp": "rs535158133",
"frequency_reference_population": 0.000017359454,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000157418,
"gnomad_genomes_af": 0.0000329216,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.926,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001438889.1",
"gene_symbol": "FANCL",
"hgnc_id": 20748,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.891A>G",
"hgvs_p": "p.Gln297Gln"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000916217.1",
"gene_symbol": "VRK2",
"hgnc_id": 12719,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*3230T>C",
"hgvs_p": null
}
],
"clinvar_disease": "FANCL-related disorder,Fanconi anemia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Fanconi anemia|FANCL-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}