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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: 11-6609311-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6609311&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6609311,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000299421.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "NM_004517.4",
"protein_id": "NP_004508.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 631,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": "ENST00000299421.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "ENST00000299421.9",
"protein_id": "ENSP00000299421.4",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 631,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": "NM_004517.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "ENST00000396751.6",
"protein_id": "ENSP00000379975.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 631,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "ENST00000420936.6",
"protein_id": "ENSP00000403487.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 631,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF10",
"gene_hgnc_id": 11543,
"hgvs_c": "n.2377G>A",
"hgvs_p": null,
"transcript": "ENST00000616342.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF10",
"gene_hgnc_id": 11543,
"hgvs_c": "c.*1611G>A",
"hgvs_p": null,
"transcript": "NM_006284.4",
"protein_id": "NP_006275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5312,
"mane_select": "ENST00000299424.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF10",
"gene_hgnc_id": 11543,
"hgvs_c": "c.*1611G>A",
"hgvs_p": null,
"transcript": "ENST00000299424.9",
"protein_id": "ENSP00000299424.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5312,
"mane_select": "NM_006284.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242Cys",
"transcript": "ENST00000537806.5",
"protein_id": "ENSP00000439606.2",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 483,
"cds_start": 724,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "NM_001014794.3",
"protein_id": "NP_001014794.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 631,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "NM_001014795.3",
"protein_id": "NP_001014795.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 631,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Arg150Cys",
"transcript": "NM_001278441.2",
"protein_id": "NP_001265370.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 391,
"cds_start": 448,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Arg150Cys",
"transcript": "ENST00000528995.5",
"protein_id": "ENSP00000435323.1",
"transcript_support_level": 2,
"aa_start": 150,
"aa_end": null,
"aa_length": 391,
"cds_start": 448,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "NM_001278442.2",
"protein_id": "NP_001265371.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 318,
"cds_start": 229,
"cds_end": null,
"cds_length": 957,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "ENST00000532063.5",
"protein_id": "ENSP00000434492.2",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 318,
"cds_start": 229,
"cds_end": null,
"cds_length": 957,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "XM_005252904.6",
"protein_id": "XP_005252961.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 631,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys",
"transcript": "XM_011520065.2",
"protein_id": "XP_011518367.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 631,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Cys",
"transcript": "XM_024448498.2",
"protein_id": "XP_024304266.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 401,
"cds_start": 478,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Cys",
"transcript": "XM_024448499.2",
"protein_id": "XP_024304267.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 401,
"cds_start": 478,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Arg77Cys",
"transcript": "XM_047426885.1",
"protein_id": "XP_047282841.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 318,
"cds_start": 229,
"cds_end": null,
"cds_length": 957,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "n.*342C>T",
"hgvs_p": null,
"transcript": "ENST00000526711.5",
"protein_id": "ENSP00000479932.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "n.*611C>T",
"hgvs_p": null,
"transcript": "ENST00000527121.5",
"protein_id": "ENSP00000436062.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "n.504C>T",
"hgvs_p": null,
"transcript": "ENST00000528784.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILK",
"gene_hgnc_id": 6040,
"hgvs_c": "n.968C>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": -4,
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{
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"protein_coding": true,
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"intron_variant"
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"transcript": "ENST00000526318.2",
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{
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{
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"downstream_gene_variant"
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"transcript": "ENST00000526114.5",
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}
],
"gene_symbol": "ILK",
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"dbsnp": "rs140322345",
"frequency_reference_population": 0.0011722138,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1892,
"gnomad_exomes_af": 0.00116982,
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"gnomad_exomes_ac": 1710,
"gnomad_genomes_ac": 182,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025575578212738037,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.819,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1869,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.361,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000299421.9",
"gene_symbol": "ILK",
"hgnc_id": 6040,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Arg211Cys"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000299424.9",
"gene_symbol": "TAF10",
"hgnc_id": 11543,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*1611G>A",
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},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000527398.1",
"gene_symbol": "ENSG00000254641",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.229-333G>A",
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}
],
"clinvar_disease": "ILK-related disorder,Primary familial hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Primary familial hypertrophic cardiomyopathy|not specified|not provided|ILK-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}