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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: 11-61959892-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61959892&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61959892,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000378043.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.949G>A",
"hgvs_p": "p.Val317Met",
"transcript": "NM_004183.4",
"protein_id": "NP_004174.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 585,
"cds_start": 949,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": "ENST00000378043.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.949G>A",
"hgvs_p": "p.Val317Met",
"transcript": "ENST00000378043.9",
"protein_id": "ENSP00000367282.4",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 585,
"cds_start": 949,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": "NM_004183.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.769G>A",
"hgvs_p": "p.Val257Met",
"transcript": "ENST00000449131.6",
"protein_id": "ENSP00000399709.2",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 604,
"cds_start": 769,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_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.-24G>A",
"hgvs_p": null,
"transcript": "NM_001363593.3",
"protein_id": "NP_001350522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Pro92Ser",
"transcript": "ENST00000530019.5",
"protein_id": "ENSP00000433470.1",
"transcript_support_level": 4,
"aa_start": 92,
"aa_end": null,
"aa_length": 113,
"cds_start": 274,
"cds_end": null,
"cds_length": 344,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Pro43Ser",
"transcript": "ENST00000529631.5",
"protein_id": "ENSP00000431575.1",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 81,
"cds_start": 127,
"cds_end": null,
"cds_length": 246,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.949G>A",
"hgvs_p": "p.Val317Met",
"transcript": "NM_001440571.1",
"protein_id": "NP_001427500.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 664,
"cds_start": 949,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.868G>A",
"hgvs_p": "p.Val290Met",
"transcript": "NM_001440572.1",
"protein_id": "NP_001427501.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 637,
"cds_start": 868,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.796G>A",
"hgvs_p": "p.Val266Met",
"transcript": "NM_001440573.1",
"protein_id": "NP_001427502.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 613,
"cds_start": 796,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.769G>A",
"hgvs_p": "p.Val257Met",
"transcript": "NM_001139443.3",
"protein_id": "NP_001132915.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 604,
"cds_start": 769,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.688G>A",
"hgvs_p": "p.Val230Met",
"transcript": "NM_001440574.1",
"protein_id": "NP_001427503.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 577,
"cds_start": 688,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.631G>A",
"hgvs_p": "p.Val211Met",
"transcript": "NM_001363591.3",
"protein_id": "NP_001350520.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 558,
"cds_start": 631,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.616G>A",
"hgvs_p": "p.Val206Met",
"transcript": "NM_001440575.1",
"protein_id": "NP_001427504.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 553,
"cds_start": 616,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.535G>A",
"hgvs_p": "p.Val179Met",
"transcript": "NM_001440576.1",
"protein_id": "NP_001427505.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 526,
"cds_start": 535,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.769G>A",
"hgvs_p": "p.Val257Met",
"transcript": "NM_001300787.2",
"protein_id": "NP_001287716.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 525,
"cds_start": 769,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.688G>A",
"hgvs_p": "p.Val230Met",
"transcript": "NM_001300786.2",
"protein_id": "NP_001287715.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 498,
"cds_start": 688,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_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.-24G>A",
"hgvs_p": null,
"transcript": "NM_001363593.3",
"protein_id": "NP_001350522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_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.106G>A",
"hgvs_p": "p.Val36Met",
"transcript": "XM_047427523.1",
"protein_id": "XP_047283479.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 304,
"cds_start": 106,
"cds_end": null,
"cds_length": 915,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"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.1152G>A",
"hgvs_p": "p.Arg384Arg",
"transcript": "NM_001363592.2",
"protein_id": "NP_001350521.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 435,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"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.834G>A",
"hgvs_p": "p.Arg278Arg",
"transcript": "ENST00000526988.1",
"protein_id": "ENSP00000433195.1",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 329,
"cds_start": 834,
"cds_end": null,
"cds_length": 990,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FTH1",
"gene_hgnc_id": 3976,
"hgvs_c": "c.150C>T",
"hgvs_p": "p.His50His",
"transcript": "ENST00000529191.5",
"protein_id": "ENSP00000431659.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 102,
"cds_start": 150,
"cds_end": null,
"cds_length": 309,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_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": "n.2580G>A",
"hgvs_p": null,
"transcript": "ENST00000524877.5",
"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": 5772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
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},
{
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},
{
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"intron_variant"
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}
],
"gene_symbol": "BEST1",
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"dbsnp": "rs121918287",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.6033395528793335,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9459999799728394,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.956,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8191,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.035,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.998477922275548,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3,PP5",
"acmg_by_gene": [
{
"score": 5,
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"pathogenic_score": 5,
"criteria": [
"PM1",
"PP2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000378043.9",
"gene_symbol": "BEST1",
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Val317Met"
},
{
"score": 1,
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"criteria": [
"PP3",
"PP5",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000530019.5",
"gene_symbol": "FTH1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Pro92Ser"
},
{
"score": 4,
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"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001748245.2",
"gene_symbol": "LOC107984334",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1C>T",
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}
],
"clinvar_disease": "Autosomal recessive bestrophinopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal recessive bestrophinopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}