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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: 15-43874310-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43874310&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43874310,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032892.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1288G>A",
"hgvs_p": "p.Val430Met",
"transcript": "NM_032892.5",
"protein_id": "NP_116281.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 570,
"cds_start": 1288,
"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": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1288G>A",
"hgvs_p": "p.Val430Met",
"transcript": "ENST00000417257.6",
"protein_id": "ENSP00000403067.1",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 570,
"cds_start": 1288,
"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.*1232G>A",
"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.*1235G>A",
"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.*1232G>A",
"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.*1235G>A",
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1288G>A",
"hgvs_p": "p.Val430Met",
"transcript": "NM_001411124.1",
"protein_id": "NP_001398053.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 517,
"cds_start": 1288,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1288G>A",
"hgvs_p": "p.Val430Met",
"transcript": "ENST00000402883.5",
"protein_id": "ENSP00000384142.1",
"transcript_support_level": 5,
"aa_start": 430,
"aa_end": null,
"aa_length": 517,
"cds_start": 1288,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1288G>A",
"hgvs_p": "p.Val430Met",
"transcript": "NM_001322949.2",
"protein_id": "NP_001309878.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 514,
"cds_start": 1288,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1288G>A",
"hgvs_p": "p.Val430Met",
"transcript": "NM_001322950.2",
"protein_id": "NP_001309879.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 508,
"cds_start": 1288,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1183G>A",
"hgvs_p": "p.Val395Met",
"transcript": "NM_001322951.2",
"protein_id": "NP_001309880.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 479,
"cds_start": 1183,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1186G>A",
"hgvs_p": "p.Val396Met",
"transcript": "ENST00000449926.5",
"protein_id": "ENSP00000399684.1",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 474,
"cds_start": 1186,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1006G>A",
"hgvs_p": "p.Val336Met",
"transcript": "NM_001286490.2",
"protein_id": "NP_001273419.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 414,
"cds_start": 1006,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1006G>A",
"hgvs_p": "p.Val336Met",
"transcript": "ENST00000484674.5",
"protein_id": "ENSP00000452968.1",
"transcript_support_level": 2,
"aa_start": 336,
"aa_end": null,
"aa_length": 414,
"cds_start": 1006,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.586G>A",
"hgvs_p": "p.Val196Met",
"transcript": "NM_001286491.2",
"protein_id": "NP_001273420.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 336,
"cds_start": 586,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.586G>A",
"hgvs_p": "p.Val196Met",
"transcript": "ENST00000618556.4",
"protein_id": "ENSP00000479575.1",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 336,
"cds_start": 586,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.325G>A",
"hgvs_p": "p.Val109Met",
"transcript": "ENST00000636859.1",
"protein_id": "ENSP00000490339.1",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 249,
"cds_start": 325,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1021G>A",
"hgvs_p": "p.Val341Met",
"transcript": "XM_047433193.1",
"protein_id": "XP_047289149.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 481,
"cds_start": 1021,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1021G>A",
"hgvs_p": "p.Val341Met",
"transcript": "XM_047433194.1",
"protein_id": "XP_047289150.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 481,
"cds_start": 1021,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.307G>A",
"hgvs_p": "p.Val103Met",
"transcript": "XM_047433195.1",
"protein_id": "XP_047289151.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 243,
"cds_start": 307,
"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.508-583G>A",
"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.*549G>A",
"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,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 15,
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"transcript": "NR_104455.2",
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"biotype": "pseudogene",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 15,
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"gene_symbol": "FRMD5",
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"transcript": "XR_931927.4",
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"biotype": "pseudogene",
"feature": "XR_931927.4"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 14,
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"gene_symbol": "FRMD5",
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"hgvs_c": "n.*549G>A",
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"transcript": "ENST00000451277.5",
"protein_id": "ENSP00000392786.1",
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451277.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "FRMD5",
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"hgvs_c": "n.*50G>A",
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"transcript": "ENST00000473965.1",
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"transcript_support_level": 2,
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473965.1"
}
],
"gene_symbol": "FRMD5",
"gene_hgnc_id": 28214,
"dbsnp": "rs754227679",
"frequency_reference_population": 0.000034072058,
"hom_count_reference_population": 1,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000348869,
"gnomad_genomes_af": 0.000026254,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1418626606464386,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.222,
"revel_prediction": "Benign",
"alphamissense_score": 0.1076,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.227,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032892.5",
"gene_symbol": "FRMD5",
"hgnc_id": 28214,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Val430Met"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}