← 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: 6-109791580-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109791580&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109791580,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000230124.8",
"consequences": [
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2376+9G>C",
"hgvs_p": null,
"transcript": "NM_014845.6",
"protein_id": "NP_055660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": -4,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "ENST00000230124.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2376+9G>C",
"hgvs_p": null,
"transcript": "ENST00000230124.8",
"protein_id": "ENSP00000230124.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": -4,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "NM_014845.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2385G>C",
"hgvs_p": "p.Gly795Gly",
"transcript": "ENST00000675714.1",
"protein_id": "ENSP00000502561.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 816,
"cds_start": 2385,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 2725,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.2834G>C",
"hgvs_p": null,
"transcript": "ENST00000675254.1",
"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": 4438,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*3202G>C",
"hgvs_p": null,
"transcript": "ENST00000675991.1",
"protein_id": "ENSP00000502162.1",
"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": 5520,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*3202G>C",
"hgvs_p": null,
"transcript": "ENST00000675991.1",
"protein_id": "ENSP00000502162.1",
"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": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2394+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674884.1",
"protein_id": "ENSP00000502668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2370+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674744.1",
"protein_id": "ENSP00000501661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2376+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675726.1",
"protein_id": "ENSP00000502452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2376+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675772.1",
"protein_id": "ENSP00000501678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2247+9G>C",
"hgvs_p": null,
"transcript": "ENST00000676442.1",
"protein_id": "ENSP00000502595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2376+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675284.1",
"protein_id": "ENSP00000502758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 849,
"cds_start": -4,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2169+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675096.1",
"protein_id": "ENSP00000502116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 838,
"cds_start": -4,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2145+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675523.1",
"protein_id": "ENSP00000502384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2145+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674933.1",
"protein_id": "ENSP00000502376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2031+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674641.1",
"protein_id": "ENSP00000501609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1983+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675831.1",
"protein_id": "ENSP00000502382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.1446+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674644.1",
"protein_id": "ENSP00000502201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.882+9G>C",
"hgvs_p": null,
"transcript": "ENST00000415980.2",
"protein_id": "ENSP00000405660.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1712,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.724+9G>C",
"hgvs_p": null,
"transcript": "ENST00000419951.2",
"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": 846,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.5572+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674532.1",
"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": 6030,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1669+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674557.1",
"protein_id": "ENSP00000501608.1",
"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": 2688,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1495+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674569.1",
"protein_id": "ENSP00000502769.1",
"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": 2781,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1495+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674571.1",
"protein_id": "ENSP00000501633.1",
"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": 2778,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1495+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674575.1",
"protein_id": "ENSP00000502276.1",
"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": 2685,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*2069+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674649.1",
"protein_id": "ENSP00000501669.1",
"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": 2811,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1808+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674657.1",
"protein_id": "ENSP00000502314.1",
"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": 2865,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1594+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674778.1",
"protein_id": "ENSP00000502742.1",
"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": 2909,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1291+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674783.1",
"protein_id": "ENSP00000502755.1",
"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": 3042,
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1501+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674930.1",
"protein_id": "ENSP00000502657.1",
"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": 2262,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1590+9G>C",
"hgvs_p": null,
"transcript": "ENST00000674956.1",
"protein_id": "ENSP00000501904.1",
"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": 2860,
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*2328+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675004.1",
"protein_id": "ENSP00000501868.1",
"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": 2805,
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1760+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675009.1",
"protein_id": "ENSP00000502098.1",
"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": 2398,
"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": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*483+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675122.1",
"protein_id": "ENSP00000501810.1",
"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": 3209,
"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": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1093+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675153.1",
"protein_id": "ENSP00000501682.1",
"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": 3062,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.6674+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675272.1",
"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": 7183,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.1033+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675301.1",
"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": 1542,
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1578+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675311.1",
"protein_id": "ENSP00000501961.1",
"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": 2610,
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1444+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675426.1",
"protein_id": "ENSP00000501819.1",
"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": 2443,
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*4639+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675552.1",
"protein_id": "ENSP00000502197.1",
"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": 9642,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.1998+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675849.1",
"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": 2486,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*38+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675879.1",
"protein_id": "ENSP00000502582.1",
"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": 1726,
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1979+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675887.1",
"protein_id": "ENSP00000502123.1",
"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": 2489,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.3709+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675954.1",
"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": 4187,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*1515+9G>C",
"hgvs_p": null,
"transcript": "ENST00000675994.1",
"protein_id": "ENSP00000502419.1",
"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": 2651,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*954+9G>C",
"hgvs_p": null,
"transcript": "ENST00000676021.1",
"protein_id": "ENSP00000502746.1",
"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": 3015,
"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": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.*303+9G>C",
"hgvs_p": null,
"transcript": "ENST00000676037.1",
"protein_id": "ENSP00000502181.1",
"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": 3211,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.5023+9G>C",
"hgvs_p": null,
"transcript": "ENST00000676136.1",
"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": 5487,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "n.266+9G>C",
"hgvs_p": null,
"transcript": "ENST00000676246.1",
"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": 436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"hgvs_c": "c.2313+9G>C",
"hgvs_p": null,
"transcript": "XM_011536281.4",
"protein_id": "XP_011534583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": -4,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FIG4",
"gene_hgnc_id": 16873,
"dbsnp": "rs374450869",
"frequency_reference_population": 6.8446553e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84466e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"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": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.067,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000230124.8",
"gene_symbol": "FIG4",
"hgnc_id": 16873,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.2376+9G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}