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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: 11-6604307-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6604307&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6604307,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001278442.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_004517.4",
"protein_id": "NP_004508.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299421.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004517.4"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000299421.9",
"protein_id": "ENSP00000299421.4",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004517.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299421.9"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000396751.6",
"protein_id": "ENSP00000379975.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396751.6"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000420936.6",
"protein_id": "ENSP00000403487.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420936.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.-201C>T",
"hgvs_p": null,
"transcript": "NM_001278442.2",
"protein_id": "NP_001265371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"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": "NM_001278442.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.-201C>T",
"hgvs_p": null,
"transcript": "ENST00000532063.5",
"protein_id": "ENSP00000434492.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"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": "ENST00000532063.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.-146C>T",
"hgvs_p": null,
"transcript": "XM_024448498.2",
"protein_id": "XP_024304266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448498.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.-237C>T",
"hgvs_p": null,
"transcript": "XM_024448499.2",
"protein_id": "XP_024304267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448499.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.-201C>T",
"hgvs_p": null,
"transcript": "XM_047426885.1",
"protein_id": "XP_047282841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"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_047426885.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000537806.5",
"protein_id": "ENSP00000439606.2",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 483,
"cds_start": 36,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537806.5"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000875224.1",
"protein_id": "ENSP00000545283.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 483,
"cds_start": 36,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875224.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000918172.1",
"protein_id": "ENSP00000588231.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 483,
"cds_start": 36,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918172.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000951920.1",
"protein_id": "ENSP00000621979.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 483,
"cds_start": 36,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951920.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001014794.3",
"protein_id": "NP_001014794.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014794.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "NM_001014795.3",
"protein_id": "NP_001014795.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014795.3"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000875220.1",
"protein_id": "ENSP00000545279.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875220.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000875221.1",
"protein_id": "ENSP00000545280.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875221.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000875222.1",
"protein_id": "ENSP00000545281.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875222.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000875223.1",
"protein_id": "ENSP00000545282.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875223.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000875228.1",
"protein_id": "ENSP00000545287.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875228.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000918174.1",
"protein_id": "ENSP00000588233.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918174.1"
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Asn12Asn",
"transcript": "ENST00000951915.1",
"protein_id": "ENSP00000621974.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 452,
"cds_start": 36,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254400",
"gene_hgnc_id": null,
"hgvs_c": "n.114G>A",
"hgvs_p": null,
"transcript": "ENST00000527191.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000527191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "n.177C>T",
"hgvs_p": null,
"transcript": "ENST00000530016.5",
"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": "retained_intron",
"feature": "ENST00000530016.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "n.155C>T",
"hgvs_p": null,
"transcript": "ENST00000534565.1",
"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": "pseudogene",
"feature": "ENST00000534565.1"
}
],
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"dbsnp": "rs199789449",
"frequency_reference_population": 0.00012895722,
"hom_count_reference_population": 3,
"allele_count_reference_population": 208,
"gnomad_exomes_af": 0.000130085,
"gnomad_genomes_af": 0.000118144,
"gnomad_exomes_ac": 190,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"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": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.41,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001278442.2",
"gene_symbol": "ILK",
"hgnc_id": 6040,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-201C>T",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000527191.1",
"gene_symbol": "ENSG00000254400",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.114G>A",
"hgvs_p": null
}
],
"clinvar_disease": "ILK-related disorder,Primary familial hypertrophic cardiomyopathy,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Primary familial hypertrophic cardiomyopathy|not specified|ILK-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}