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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: 4-108079511-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=108079511&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 108079511,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016269.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Asp276Asn",
"transcript": "NM_016269.5",
"protein_id": "NP_057353.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 399,
"cds_start": 826,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265165.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016269.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Asp276Asn",
"transcript": "ENST00000265165.6",
"protein_id": "ENSP00000265165.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 399,
"cds_start": 826,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016269.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265165.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"transcript": "ENST00000379951.6",
"protein_id": "ENSP00000369284.2",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 386,
"cds_start": 742,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379951.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"transcript": "ENST00000438313.6",
"protein_id": "ENSP00000406176.2",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 371,
"cds_start": 742,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438313.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.826G>A",
"hgvs_p": null,
"transcript": "ENST00000506680.5",
"protein_id": "ENSP00000422334.1",
"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": "ENST00000506680.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Asp276Asn",
"transcript": "ENST00000890431.1",
"protein_id": "ENSP00000560490.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 412,
"cds_start": 826,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890431.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Asp276Asn",
"transcript": "ENST00000948094.1",
"protein_id": "ENSP00000618153.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 397,
"cds_start": 826,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948094.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"transcript": "NM_001130714.3",
"protein_id": "NP_001124186.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 386,
"cds_start": 742,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130714.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"transcript": "NM_001130713.3",
"protein_id": "NP_001124185.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 371,
"cds_start": 742,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130713.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"transcript": "ENST00000890430.1",
"protein_id": "ENSP00000560489.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 369,
"cds_start": 742,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890430.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Asp248Asn",
"transcript": "ENST00000948093.1",
"protein_id": "ENSP00000618152.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 335,
"cds_start": 742,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948093.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Asp180Asn",
"transcript": "NM_001166119.2",
"protein_id": "NP_001159591.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 303,
"cds_start": 538,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166119.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Asp180Asn",
"transcript": "ENST00000510624.5",
"protein_id": "ENSP00000422840.1",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 303,
"cds_start": 538,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510624.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Asp276Asn",
"transcript": "XM_005263046.4",
"protein_id": "XP_005263103.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 414,
"cds_start": 826,
"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": "XM_005263046.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Asp208Asn",
"transcript": "XM_005263047.1",
"protein_id": "XP_005263104.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 346,
"cds_start": 622,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263047.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Asp180Asn",
"transcript": "XM_005263048.1",
"protein_id": "XP_005263105.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 318,
"cds_start": 538,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263048.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Asp161Asn",
"transcript": "XM_006714233.2",
"protein_id": "XP_006714296.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 299,
"cds_start": 481,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714233.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.569G>A",
"hgvs_p": null,
"transcript": "ENST00000504775.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000504775.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.*87G>A",
"hgvs_p": null,
"transcript": "ENST00000504950.5",
"protein_id": "ENSP00000427459.1",
"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": "ENST00000504950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.162G>A",
"hgvs_p": null,
"transcript": "ENST00000505379.5",
"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": "pseudogene",
"feature": "ENST00000505379.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.561G>A",
"hgvs_p": null,
"transcript": "ENST00000509428.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000509428.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.621G>A",
"hgvs_p": null,
"transcript": "ENST00000510135.5",
"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": "pseudogene",
"feature": "ENST00000510135.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.1991G>A",
"hgvs_p": null,
"transcript": "XR_007057925.1",
"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": "XR_007057925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.1907G>A",
"hgvs_p": null,
"transcript": "XR_007057926.1",
"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": "XR_007057926.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.643G>A",
"hgvs_p": null,
"transcript": "XR_007057927.1",
"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": "XR_007057927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"hgvs_c": "n.*87G>A",
"hgvs_p": null,
"transcript": "ENST00000504950.5",
"protein_id": "ENSP00000427459.1",
"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": "ENST00000504950.5"
}
],
"gene_symbol": "LEF1",
"gene_hgnc_id": 6551,
"dbsnp": "rs1374631633",
"frequency_reference_population": 0.000004337142,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000205223,
"gnomad_genomes_af": 0.0000262916,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3229631781578064,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.474,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1259,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.663,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_016269.5",
"gene_symbol": "LEF1",
"hgnc_id": 6551,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Asp276Asn"
}
],
"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
}