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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: 6-149679896-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=149679896&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 149679896,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004690.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "NM_004690.4",
"protein_id": "NP_004681.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000543571.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004690.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "ENST00000543571.6",
"protein_id": "ENSP00000437550.1",
"transcript_support_level": 1,
"aa_start": 858,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004690.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543571.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "ENST00000253339.9",
"protein_id": "ENSP00000253339.5",
"transcript_support_level": 1,
"aa_start": 858,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253339.9"
},
{
"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": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "n.*2259G>A",
"hgvs_p": null,
"transcript": "ENST00000441107.5",
"protein_id": "ENSP00000403815.1",
"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": "ENST00000441107.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "n.*2259G>A",
"hgvs_p": null,
"transcript": "ENST00000441107.5",
"protein_id": "ENSP00000403815.1",
"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": "ENST00000441107.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "ENST00000852166.1",
"protein_id": "ENSP00000522225.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852166.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "ENST00000916254.1",
"protein_id": "ENSP00000586313.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916254.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "ENST00000852165.1",
"protein_id": "ENSP00000522224.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852165.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "ENST00000916255.1",
"protein_id": "ENSP00000586314.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916255.1"
},
{
"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": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2257G>A",
"hgvs_p": "p.Asp753Asn",
"transcript": "NM_001350339.2",
"protein_id": "NP_001337268.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2257,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350339.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2257G>A",
"hgvs_p": "p.Asp753Asn",
"transcript": "NM_001350340.2",
"protein_id": "NP_001337269.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2257,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350340.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Asp578Asn",
"transcript": "NM_001350392.2",
"protein_id": "NP_001337321.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 850,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350392.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_017011474.2",
"protein_id": "XP_016866963.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011474.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_024446583.2",
"protein_id": "XP_024302351.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446583.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_047419517.1",
"protein_id": "XP_047275473.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1163,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419517.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_047419518.1",
"protein_id": "XP_047275474.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1130,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419518.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_017011477.2",
"protein_id": "XP_016866966.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011477.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_011536252.3",
"protein_id": "XP_011534554.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2572,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536252.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_047419519.1",
"protein_id": "XP_047275475.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 996,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419519.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_017011479.2",
"protein_id": "XP_016866968.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 993,
"cds_start": 2572,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011479.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_006715603.4",
"protein_id": "XP_006715666.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 886,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715603.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.1732G>A",
"hgvs_p": "p.Asp578Asn",
"transcript": "XM_047419521.1",
"protein_id": "XP_047275477.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 883,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419521.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn",
"transcript": "XM_047419522.1",
"protein_id": "XP_047275478.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 866,
"cds_start": 2572,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "n.2409G>A",
"hgvs_p": null,
"transcript": "ENST00000542747.5",
"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": "ENST00000542747.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"hgvs_c": "n.3026G>A",
"hgvs_p": null,
"transcript": "NR_073033.2",
"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_073033.2"
}
],
"gene_symbol": "LATS1",
"gene_hgnc_id": 6514,
"dbsnp": "rs750361655",
"frequency_reference_population": 0.000018095414,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000186146,
"gnomad_genomes_af": 0.0000131456,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2871572971343994,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.2956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.024,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004690.4",
"gene_symbol": "LATS1",
"hgnc_id": 6514,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Asp858Asn"
}
],
"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
}