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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: 3-99848526-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=99848526&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 99848526,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387850.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.3150T>A",
"hgvs_p": "p.Asn1050Lys",
"transcript": "NM_001387850.1",
"protein_id": "NP_001374779.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000477258.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387850.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.3150T>A",
"hgvs_p": "p.Asn1050Lys",
"transcript": "ENST00000477258.2",
"protein_id": "ENSP00000417617.2",
"transcript_support_level": 2,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387850.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477258.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.3150T>A",
"hgvs_p": "p.Asn1050Lys",
"transcript": "ENST00000354552.7",
"protein_id": "ENSP00000346560.3",
"transcript_support_level": 1,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354552.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.3150T>A",
"hgvs_p": "p.Asn1050Lys",
"transcript": "ENST00000331335.9",
"protein_id": "ENSP00000327880.5",
"transcript_support_level": 1,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331335.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2430T>A",
"hgvs_p": "p.Asn810Lys",
"transcript": "ENST00000471562.1",
"protein_id": "ENSP00000419642.1",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 895,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471562.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2430T>A",
"hgvs_p": "p.Asn810Lys",
"transcript": "ENST00000383694.3",
"protein_id": "ENSP00000373192.2",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 893,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383694.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2430T>A",
"hgvs_p": "p.Asn810Lys",
"transcript": "ENST00000495625.2",
"protein_id": "ENSP00000419874.2",
"transcript_support_level": 1,
"aa_start": 810,
"aa_end": null,
"aa_length": 836,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495625.2"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
"gene_hgnc_id": 28666,
"hgvs_c": "c.64+30483A>T",
"hgvs_p": null,
"transcript": "NM_032359.4",
"protein_id": "NP_115735.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000421999.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032359.4"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
"gene_hgnc_id": 28666,
"hgvs_c": "c.64+30483A>T",
"hgvs_p": null,
"transcript": "ENST00000421999.8",
"protein_id": "ENSP00000410396.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032359.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421999.8"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
"gene_hgnc_id": 28666,
"hgvs_c": "n.132+30483A>T",
"hgvs_p": null,
"transcript": "ENST00000496116.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000496116.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.3150T>A",
"hgvs_p": "p.Asn1050Lys",
"transcript": "NM_182909.4",
"protein_id": "NP_878913.2",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1135,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182909.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.3150T>A",
"hgvs_p": "p.Asn1050Lys",
"transcript": "NM_001042459.3",
"protein_id": "NP_001035924.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042459.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2430T>A",
"hgvs_p": "p.Asn810Lys",
"transcript": "NM_001387851.1",
"protein_id": "NP_001374780.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 950,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387851.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2430T>A",
"hgvs_p": "p.Asn810Lys",
"transcript": "NM_001282794.2",
"protein_id": "NP_001269723.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 895,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282794.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2430T>A",
"hgvs_p": "p.Asn810Lys",
"transcript": "NM_001370247.1",
"protein_id": "NP_001357176.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 893,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370247.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"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": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2430T>A",
"hgvs_p": "p.Asn810Lys",
"transcript": "NM_014890.4",
"protein_id": "NP_055705.2",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 893,
"cds_start": 2430,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014890.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.1878T>A",
"hgvs_p": "p.Asn626Lys",
"transcript": "NM_001282793.2",
"protein_id": "NP_001269722.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 711,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282793.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.1878T>A",
"hgvs_p": "p.Asn626Lys",
"transcript": "ENST00000487087.6",
"protein_id": "ENSP00000417774.1",
"transcript_support_level": 5,
"aa_start": 626,
"aa_end": null,
"aa_length": 711,
"cds_start": 1878,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487087.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2670T>A",
"hgvs_p": "p.Asn890Lys",
"transcript": "XM_047447376.1",
"protein_id": "XP_047303332.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 973,
"cds_start": 2670,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447376.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.2586T>A",
"hgvs_p": "p.Asn862Lys",
"transcript": "XM_011512371.3",
"protein_id": "XP_011510673.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 945,
"cds_start": 2586,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512371.3"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "c.606-17921T>A",
"hgvs_p": null,
"transcript": "NM_001387852.1",
"protein_id": "NP_001374781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"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": "NM_001387852.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
"gene_hgnc_id": 28666,
"hgvs_c": "c.-114+30483A>T",
"hgvs_p": null,
"transcript": "ENST00000463526.1",
"protein_id": "ENSP00000418855.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 24,
"cds_start": null,
"cds_end": null,
"cds_length": 77,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463526.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "n.103-17921T>A",
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"transcript": "ENST00000476723.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000476723.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMSS1",
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"hgvs_c": "n.64+30483A>T",
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"transcript": "ENST00000491299.5",
"protein_id": "ENSP00000418609.1",
"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": "ENST00000491299.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"hgvs_c": "n.103-17921T>A",
"hgvs_p": null,
"transcript": "NR_170715.1",
"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_170715.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105374010",
"gene_hgnc_id": null,
"hgvs_c": "n.182+30483A>T",
"hgvs_p": null,
"transcript": "NR_189163.1",
"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_189163.1"
}
],
"gene_symbol": "FILIP1L",
"gene_hgnc_id": 24589,
"dbsnp": "rs747188276",
"frequency_reference_population": 0.00005267212,
"hom_count_reference_population": 0,
"allele_count_reference_population": 77,
"gnomad_exomes_af": 0.0000526721,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05085831880569458,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.3334,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.281,
"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": "NM_001387850.1",
"gene_symbol": "FILIP1L",
"hgnc_id": 24589,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3150T>A",
"hgvs_p": "p.Asn1050Lys"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032359.4",
"gene_symbol": "CMSS1",
"hgnc_id": 28666,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.64+30483A>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_189163.1",
"gene_symbol": "LOC105374010",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.182+30483A>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}