← 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: 9-14890270-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14890270&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 14890270,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000380880.4",
"consequences": [
{
"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": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "NM_001379081.2",
"protein_id": "NP_001366010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "ENST00000380880.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "ENST00000380880.4",
"protein_id": "ENSP00000370262.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "NM_001379081.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.-268+19644A>T",
"hgvs_p": null,
"transcript": "ENST00000380875.7",
"protein_id": "ENSP00000370257.3",
"transcript_support_level": 1,
"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": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "NM_144966.7",
"protein_id": "NP_659403.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "NM_001370060.1",
"protein_id": "NP_001356989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": -4,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "NM_001370063.1",
"protein_id": "NP_001356992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19852A>T",
"hgvs_p": null,
"transcript": "NM_001370065.1",
"protein_id": "NP_001356994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.549+19644A>T",
"hgvs_p": null,
"transcript": "NR_163238.2",
"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": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.307+19852A>T",
"hgvs_p": null,
"transcript": "NR_163239.2",
"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": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.515+19644A>T",
"hgvs_p": null,
"transcript": "NR_163240.1",
"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": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.515+19644A>T",
"hgvs_p": null,
"transcript": "NR_163241.1",
"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": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_017014316.3",
"protein_id": "XP_016869805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2188,
"cds_start": -4,
"cds_end": null,
"cds_length": 6567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+18494A>T",
"hgvs_p": null,
"transcript": "XM_017014319.3",
"protein_id": "XP_016869808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2188,
"cds_start": -4,
"cds_end": null,
"cds_length": 6567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+18494A>T",
"hgvs_p": null,
"transcript": "XM_017014320.3",
"protein_id": "XP_016869809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2188,
"cds_start": -4,
"cds_end": null,
"cds_length": 6567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19852A>T",
"hgvs_p": null,
"transcript": "XM_017014321.3",
"protein_id": "XP_016869810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2188,
"cds_start": -4,
"cds_end": null,
"cds_length": 6567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19885A>T",
"hgvs_p": null,
"transcript": "XM_017014322.2",
"protein_id": "XP_016869811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2188,
"cds_start": -4,
"cds_end": null,
"cds_length": 6567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_047422844.1",
"protein_id": "XP_047278800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2188,
"cds_start": -4,
"cds_end": null,
"cds_length": 6567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+18494A>T",
"hgvs_p": null,
"transcript": "XM_047422845.1",
"protein_id": "XP_047278801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2188,
"cds_start": -4,
"cds_end": null,
"cds_length": 6567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19852A>T",
"hgvs_p": null,
"transcript": "XM_047422846.1",
"protein_id": "XP_047278802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19885A>T",
"hgvs_p": null,
"transcript": "XM_047422847.1",
"protein_id": "XP_047278803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+18494A>T",
"hgvs_p": null,
"transcript": "XM_047422848.1",
"protein_id": "XP_047278804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 36,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_017014324.3",
"protein_id": "XP_016869813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2138,
"cds_start": -4,
"cds_end": null,
"cds_length": 6417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 36,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_017014325.3",
"protein_id": "XP_016869814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2099,
"cds_start": -4,
"cds_end": null,
"cds_length": 6300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_017014328.3",
"protein_id": "XP_016869817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1836,
"cds_start": -4,
"cds_end": null,
"cds_length": 5511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_017014329.3",
"protein_id": "XP_016869818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1816,
"cds_start": -4,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_047422849.1",
"protein_id": "XP_047278805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1492,
"cds_start": -4,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_047422850.1",
"protein_id": "XP_047278806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1491,
"cds_start": -4,
"cds_end": null,
"cds_length": 4476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_047422851.1",
"protein_id": "XP_047278807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": -4,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_047422852.1",
"protein_id": "XP_047278808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1482,
"cds_start": -4,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_047422853.1",
"protein_id": "XP_047278809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1410,
"cds_start": -4,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19885A>T",
"hgvs_p": null,
"transcript": "XM_047422854.1",
"protein_id": "XP_047278810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1401,
"cds_start": -4,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_047422855.1",
"protein_id": "XP_047278811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1346,
"cds_start": -4,
"cds_end": null,
"cds_length": 4041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_017014330.3",
"protein_id": "XP_016869819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19644A>T",
"hgvs_p": null,
"transcript": "XM_047422856.1",
"protein_id": "XP_047278812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19852A>T",
"hgvs_p": null,
"transcript": "XM_047422857.1",
"protein_id": "XP_047278813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.-268+19885A>T",
"hgvs_p": null,
"transcript": "XM_047422858.1",
"protein_id": "XP_047278814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1337,
"cds_start": -4,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"dbsnp": "rs1996893",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.036,
"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": "ENST00000380880.4",
"gene_symbol": "FREM1",
"hgnc_id": 23399,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-268+19644A>T",
"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
}