← 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: 3-25501285-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=25501285&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 25501285,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000330688.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "NM_000965.5",
"protein_id": "NP_000956.2",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 448,
"cds_start": 410,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": "ENST00000330688.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000330688.9",
"protein_id": "ENSP00000332296.4",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 448,
"cds_start": 410,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": "NM_000965.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "ENST00000437042.7",
"protein_id": "ENSP00000398840.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 336,
"cds_start": 74,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "ENST00000458646.2",
"protein_id": "ENSP00000391391.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 336,
"cds_start": 74,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "NM_001290216.3",
"protein_id": "NP_001277145.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 455,
"cds_start": 431,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "ENST00000383772.9",
"protein_id": "ENSP00000373282.5",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 455,
"cds_start": 431,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "ENST00000686715.1",
"protein_id": "ENSP00000510539.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 455,
"cds_start": 431,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "ENST00000687353.1",
"protein_id": "ENSP00000508588.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 455,
"cds_start": 431,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "ENST00000687676.1",
"protein_id": "ENSP00000510313.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 455,
"cds_start": 431,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "ENST00000688892.1",
"protein_id": "ENSP00000510650.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 455,
"cds_start": 431,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001290300.2",
"protein_id": "NP_001277229.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 405,
"cds_start": 281,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "NM_001290277.1",
"protein_id": "NP_001277206.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 402,
"cds_start": 410,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000691912.1",
"protein_id": "ENSP00000510520.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 402,
"cds_start": 410,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88Gln",
"transcript": "NM_001290266.2",
"protein_id": "NP_001277195.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 399,
"cds_start": 263,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "NM_001290217.2",
"protein_id": "NP_001277146.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 336,
"cds_start": 74,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "NM_001290276.2",
"protein_id": "NP_001277205.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 336,
"cds_start": 74,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "NM_016152.4",
"protein_id": "NP_057236.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 336,
"cds_start": 74,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.74G>A",
"hgvs_p": "p.Arg25Gln",
"transcript": "ENST00000693261.1",
"protein_id": "ENSP00000508421.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 336,
"cds_start": 74,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln",
"transcript": "ENST00000687083.1",
"protein_id": "ENSP00000509681.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 266,
"cds_start": 410,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144Gln",
"transcript": "ENST00000455576.2",
"protein_id": "ENSP00000508527.1",
"transcript_support_level": 4,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 431,
"cds_end": null,
"cds_length": 469,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1145,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.290G>A",
"hgvs_p": null,
"transcript": "ENST00000462272.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 2563,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.410G>A",
"hgvs_p": null,
"transcript": "ENST00000479097.6",
"protein_id": "ENSP00000508755.1",
"transcript_support_level": 3,
"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": 2352,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.410G>A",
"hgvs_p": null,
"transcript": "ENST00000480001.6",
"protein_id": "ENSP00000510647.1",
"transcript_support_level": 3,
"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": 2722,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.*246G>A",
"hgvs_p": null,
"transcript": "ENST00000685523.1",
"protein_id": "ENSP00000508765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3036,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.104G>A",
"hgvs_p": null,
"transcript": "ENST00000689700.1",
"protein_id": "ENSP00000510200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2409,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.431G>A",
"hgvs_p": null,
"transcript": "ENST00000690398.1",
"protein_id": "ENSP00000510044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2854,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.251G>A",
"hgvs_p": null,
"transcript": "ENST00000691580.1",
"protein_id": "ENSP00000510073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2492,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.104G>A",
"hgvs_p": null,
"transcript": "ENST00000693580.1",
"protein_id": "ENSP00000510405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 866,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.879G>A",
"hgvs_p": null,
"transcript": "NR_110892.2",
"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": 2971,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.879G>A",
"hgvs_p": null,
"transcript": "NR_110893.2",
"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": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124909356",
"gene_hgnc_id": null,
"hgvs_c": "n.902C>T",
"hgvs_p": null,
"transcript": "XR_007095847.1",
"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": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.*246G>A",
"hgvs_p": null,
"transcript": "ENST00000685523.1",
"protein_id": "ENSP00000508765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"dbsnp": "rs1387195672",
"frequency_reference_population": 0.0000012428752,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.86144e-7,
"gnomad_genomes_af": 0.0000065897,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9878796935081482,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.925,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000330688.9",
"gene_symbol": "RARB",
"hgnc_id": 9865,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137Gln"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_007095847.1",
"gene_symbol": "LOC124909356",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.902C>T",
"hgvs_p": null
}
],
"clinvar_disease": " syndromic 12,Microphthalmia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Microphthalmia, syndromic 12",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}