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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: 11-61959934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61959934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61959934,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001440571.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Trp",
"transcript": "NM_004183.4",
"protein_id": "NP_004174.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 585,
"cds_start": 991,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378043.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004183.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Trp",
"transcript": "ENST00000378043.9",
"protein_id": "ENSP00000367282.4",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 585,
"cds_start": 991,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004183.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378043.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Trp",
"transcript": "ENST00000449131.6",
"protein_id": "ENSP00000399709.2",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 604,
"cds_start": 811,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449131.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Trp",
"transcript": "NM_001440571.1",
"protein_id": "NP_001427500.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 664,
"cds_start": 991,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440571.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304Trp",
"transcript": "NM_001440572.1",
"protein_id": "NP_001427501.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 637,
"cds_start": 910,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440572.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Trp",
"transcript": "NM_001440573.1",
"protein_id": "NP_001427502.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 613,
"cds_start": 838,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440573.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Trp",
"transcript": "NM_001139443.3",
"protein_id": "NP_001132915.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 604,
"cds_start": 811,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139443.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Arg244Trp",
"transcript": "NM_001440574.1",
"protein_id": "NP_001427503.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 577,
"cds_start": 730,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440574.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "NM_001363591.3",
"protein_id": "NP_001350520.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 558,
"cds_start": 673,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363591.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.658C>T",
"hgvs_p": "p.Arg220Trp",
"transcript": "NM_001440575.1",
"protein_id": "NP_001427504.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 553,
"cds_start": 658,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440575.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Arg193Trp",
"transcript": "NM_001440576.1",
"protein_id": "NP_001427505.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 526,
"cds_start": 577,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440576.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.811C>T",
"hgvs_p": "p.Arg271Trp",
"transcript": "NM_001300787.2",
"protein_id": "NP_001287716.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 525,
"cds_start": 811,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300787.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Arg244Trp",
"transcript": "NM_001300786.2",
"protein_id": "NP_001287715.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 498,
"cds_start": 730,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300786.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Trp",
"transcript": "NM_001363593.3",
"protein_id": "NP_001350522.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 340,
"cds_start": 19,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363593.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50Trp",
"transcript": "XM_047427523.1",
"protein_id": "XP_047283479.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 304,
"cds_start": 148,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427523.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.1194C>T",
"hgvs_p": "p.Leu398Leu",
"transcript": "NM_001363592.2",
"protein_id": "NP_001350521.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 435,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363592.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.876C>T",
"hgvs_p": "p.Leu292Leu",
"transcript": "ENST00000526988.1",
"protein_id": "ENSP00000433195.1",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 329,
"cds_start": 876,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526988.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.262-30G>A",
"hgvs_p": null,
"transcript": "ENST00000530019.5",
"protein_id": "ENSP00000433470.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530019.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.115-7G>A",
"hgvs_p": null,
"transcript": "ENST00000529191.5",
"protein_id": "ENSP00000431659.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": null,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529191.5"
},
{
"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": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.115-30G>A",
"hgvs_p": null,
"transcript": "ENST00000529631.5",
"protein_id": "ENSP00000431575.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": null,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529631.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.164-2321C>T",
"hgvs_p": null,
"transcript": "ENST00000534553.5",
"protein_id": "ENSP00000431189.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534553.5"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.715-2321C>T",
"hgvs_p": null,
"transcript": "XM_005274221.5",
"protein_id": "XP_005274278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274221.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "BEST1",
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"hgvs_c": "n.2622C>T",
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"transcript": "ENST00000524877.5",
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"transcript_support_level": 2,
"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": "ENST00000524877.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.1194C>T",
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"transcript": "ENST00000524926.5",
"protein_id": "ENSP00000432681.1",
"transcript_support_level": 2,
"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": "ENST00000524926.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.1307C>T",
"hgvs_p": null,
"transcript": "NR_134580.2",
"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": "pseudogene",
"feature": "NR_134580.2"
},
{
"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": "LOC107984334",
"gene_hgnc_id": null,
"hgvs_c": "n.-42G>A",
"hgvs_p": null,
"transcript": "XR_001748245.2",
"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": "pseudogene",
"feature": "XR_001748245.2"
}
],
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"dbsnp": "rs757536535",
"frequency_reference_population": 0.000017357366,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000164274,
"gnomad_genomes_af": 0.0000262864,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40628406405448914,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.433,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.111,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.353,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001440571.1",
"gene_symbol": "BEST1",
"hgnc_id": 12703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Trp"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000529191.5",
"gene_symbol": "FTH1",
"hgnc_id": 3976,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.115-7G>A",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001748245.2",
"gene_symbol": "LOC107984334",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-42G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant vitreoretinochoroidopathy,Retinitis pigmentosa,Vitelliform macular dystrophy 2,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 B:1",
"phenotype_combined": "Retinitis pigmentosa|Autosomal dominant vitreoretinochoroidopathy|Vitelliform macular dystrophy 2|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}