← 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: 2-215430725-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=215430725&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "2",
"pos": 215430725,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000354785.11",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_212482.4",
"protein_id": "NP_997647.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2477,
"cds_start": 675,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8390,
"mane_select": "ENST00000354785.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000354785.11",
"protein_id": "ENSP00000346839.4",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2477,
"cds_start": 675,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8390,
"mane_select": "NM_212482.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000323926.10",
"protein_id": "ENSP00000323534.6",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2446,
"cds_start": 675,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000336916.8",
"protein_id": "ENSP00000338200.4",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2355,
"cds_start": 675,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000446046.5",
"protein_id": "ENSP00000410422.1",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2330,
"cds_start": 675,
"cds_end": null,
"cds_length": 6993,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000356005.8",
"protein_id": "ENSP00000348285.4",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2296,
"cds_start": 675,
"cds_end": null,
"cds_length": 6891,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000432072.6",
"protein_id": "ENSP00000399538.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2267,
"cds_start": 675,
"cds_end": null,
"cds_length": 6804,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000443816.5",
"protein_id": "ENSP00000415018.1",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2265,
"cds_start": 675,
"cds_end": null,
"cds_length": 6798,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 7762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000421182.5",
"protein_id": "ENSP00000394423.1",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2240,
"cds_start": 675,
"cds_end": null,
"cds_length": 6723,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 8103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000357867.8",
"protein_id": "ENSP00000350534.4",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 2176,
"cds_start": 675,
"cds_end": null,
"cds_length": 6531,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000426059.1",
"protein_id": "ENSP00000398907.1",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 657,
"cds_start": 675,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001306129.2",
"protein_id": "NP_001293058.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2446,
"cds_start": 675,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001365517.2",
"protein_id": "NP_001352446.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2387,
"cds_start": 675,
"cds_end": null,
"cds_length": 7164,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001365518.2",
"protein_id": "NP_001352447.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2386,
"cds_start": 675,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "ENST00000359671.5",
"protein_id": "ENSP00000352696.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 2386,
"cds_start": 675,
"cds_end": null,
"cds_length": 7161,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001365519.2",
"protein_id": "NP_001352448.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2362,
"cds_start": 675,
"cds_end": null,
"cds_length": 7089,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001365520.2",
"protein_id": "NP_001352449.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2361,
"cds_start": 675,
"cds_end": null,
"cds_length": 7086,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001365521.2",
"protein_id": "NP_001352450.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2356,
"cds_start": 675,
"cds_end": null,
"cds_length": 7071,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_002026.4",
"protein_id": "NP_002017.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2355,
"cds_start": 675,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001365522.2",
"protein_id": "NP_001352451.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2331,
"cds_start": 675,
"cds_end": null,
"cds_length": 6996,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_212478.3",
"protein_id": "NP_997643.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2330,
"cds_start": 675,
"cds_end": null,
"cds_length": 6993,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_212476.3",
"protein_id": "NP_997641.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2296,
"cds_start": 675,
"cds_end": null,
"cds_length": 6891,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001365523.2",
"protein_id": "NP_001352452.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2271,
"cds_start": 675,
"cds_end": null,
"cds_length": 6816,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001306130.2",
"protein_id": "NP_001293059.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2267,
"cds_start": 675,
"cds_end": null,
"cds_length": 6804,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001365524.2",
"protein_id": "NP_001352453.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2266,
"cds_start": 675,
"cds_end": null,
"cds_length": 6801,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001306131.2",
"protein_id": "NP_001293060.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2265,
"cds_start": 675,
"cds_end": null,
"cds_length": 6798,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_001306132.2",
"protein_id": "NP_001293061.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2240,
"cds_start": 675,
"cds_end": null,
"cds_length": 6723,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_212474.3",
"protein_id": "NP_997639.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 2176,
"cds_start": 675,
"cds_end": null,
"cds_length": 6531,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 7487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys",
"transcript": "NM_054034.3",
"protein_id": "NP_473375.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 657,
"cds_start": 675,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"dbsnp": "rs1181638652",
"frequency_reference_population": 0.0000043373466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410467,
"gnomad_genomes_af": 0.00000657289,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.055,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000354785.11",
"gene_symbol": "FN1",
"hgnc_id": 3778,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.675C>T",
"hgvs_p": "p.Cys225Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}