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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-43874320-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43874320&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43874320,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_032892.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Pro426Pro",
"transcript": "NM_032892.5",
"protein_id": "NP_116281.2",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 570,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000417257.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032892.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Pro426Pro",
"transcript": "ENST00000417257.6",
"protein_id": "ENSP00000403067.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 570,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032892.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417257.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.*1222T>C",
"hgvs_p": null,
"transcript": "ENST00000421674.5",
"protein_id": "ENSP00000401635.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421674.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.*1225T>C",
"hgvs_p": null,
"transcript": "ENST00000458630.5",
"protein_id": "ENSP00000404496.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458630.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.*1222T>C",
"hgvs_p": null,
"transcript": "ENST00000421674.5",
"protein_id": "ENSP00000401635.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421674.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.*1225T>C",
"hgvs_p": null,
"transcript": "ENST00000458630.5",
"protein_id": "ENSP00000404496.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458630.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Pro426Pro",
"transcript": "NM_001411124.1",
"protein_id": "NP_001398053.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 517,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411124.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Pro426Pro",
"transcript": "ENST00000402883.5",
"protein_id": "ENSP00000384142.1",
"transcript_support_level": 5,
"aa_start": 426,
"aa_end": null,
"aa_length": 517,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402883.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Pro426Pro",
"transcript": "NM_001322949.2",
"protein_id": "NP_001309878.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 514,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322949.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Pro426Pro",
"transcript": "NM_001322950.2",
"protein_id": "NP_001309879.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 508,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322950.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1173T>C",
"hgvs_p": "p.Pro391Pro",
"transcript": "NM_001322951.2",
"protein_id": "NP_001309880.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 479,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322951.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1176T>C",
"hgvs_p": "p.Pro392Pro",
"transcript": "ENST00000449926.5",
"protein_id": "ENSP00000399684.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 474,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449926.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.996T>C",
"hgvs_p": "p.Pro332Pro",
"transcript": "NM_001286490.2",
"protein_id": "NP_001273419.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 414,
"cds_start": 996,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286490.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.996T>C",
"hgvs_p": "p.Pro332Pro",
"transcript": "ENST00000484674.5",
"protein_id": "ENSP00000452968.1",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 414,
"cds_start": 996,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484674.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Pro192Pro",
"transcript": "NM_001286491.2",
"protein_id": "NP_001273420.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 336,
"cds_start": 576,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286491.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Pro192Pro",
"transcript": "ENST00000618556.4",
"protein_id": "ENSP00000479575.1",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 336,
"cds_start": 576,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618556.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.315T>C",
"hgvs_p": "p.Pro105Pro",
"transcript": "ENST00000636859.1",
"protein_id": "ENSP00000490339.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 249,
"cds_start": 315,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636859.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1011T>C",
"hgvs_p": "p.Pro337Pro",
"transcript": "XM_047433193.1",
"protein_id": "XP_047289149.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 481,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433193.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.1011T>C",
"hgvs_p": "p.Pro337Pro",
"transcript": "XM_047433194.1",
"protein_id": "XP_047289150.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 481,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433194.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.297T>C",
"hgvs_p": "p.Pro99Pro",
"transcript": "XM_047433195.1",
"protein_id": "XP_047289151.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 243,
"cds_start": 297,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433195.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "c.508-593T>C",
"hgvs_p": null,
"transcript": "ENST00000558108.6",
"protein_id": "ENSP00000454031.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558108.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.*539T>C",
"hgvs_p": null,
"transcript": "ENST00000451277.5",
"protein_id": "ENSP00000392786.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451277.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.1811T>C",
"hgvs_p": null,
"transcript": "NR_104455.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104455.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.1495T>C",
"hgvs_p": null,
"transcript": "XR_931927.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_931927.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.*539T>C",
"hgvs_p": null,
"transcript": "ENST00000451277.5",
"protein_id": "ENSP00000392786.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451277.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"hgvs_c": "n.*40T>C",
"hgvs_p": null,
"transcript": "ENST00000473965.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473965.1"
}
],
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"dbsnp": "rs61735012",
"frequency_reference_population": 0.0033552556,
"hom_count_reference_population": 167,
"allele_count_reference_population": 5416,
"gnomad_exomes_af": 0.0018059,
"gnomad_genomes_af": 0.0182257,
"gnomad_exomes_ac": 2640,
"gnomad_genomes_ac": 2776,
"gnomad_exomes_homalt": 88,
"gnomad_genomes_homalt": 79,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"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": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.117,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032892.5",
"gene_symbol": "FRMD5",
"hgnc_id": 28214,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1278T>C",
"hgvs_p": "p.Pro426Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}