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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: 2-172504202-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=172504202&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 172504202,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001394928.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.3351delA",
"hgvs_p": "p.Lys1117fs",
"transcript": "NM_001394928.1",
"protein_id": "NP_001381857.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3351,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 3554,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": "ENST00000442250.6",
"biotype": "protein_coding",
"feature": "NM_001394928.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.3351delA",
"hgvs_p": "p.Lys1117fs",
"transcript": "ENST00000442250.6",
"protein_id": "ENSP00000406694.1",
"transcript_support_level": 5,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1130,
"cds_start": 3351,
"cds_end": null,
"cds_length": 3393,
"cdna_start": 3554,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": null,
"mane_plus": "NM_001394928.1",
"biotype": "protein_coding",
"feature": "ENST00000442250.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "NM_000210.4",
"protein_id": "NP_000201.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": null,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": "ENST00000684293.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000210.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "ENST00000684293.1",
"protein_id": "ENSP00000508249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": null,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": "NM_000210.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "ENST00000264107.12",
"protein_id": "ENSP00000264107.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": null,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264107.12"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.3234delA",
"hgvs_p": "p.Lys1078fs",
"transcript": "NM_001079818.3",
"protein_id": "NP_001073286.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3234,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3437,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079818.3"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.3234delA",
"hgvs_p": "p.Lys1078fs",
"transcript": "ENST00000409080.6",
"protein_id": "ENSP00000386896.1",
"transcript_support_level": 2,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3234,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3437,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409080.6"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.3219delA",
"hgvs_p": "p.Lys1073fs",
"transcript": "ENST00000458358.5",
"protein_id": "ENSP00000394169.1",
"transcript_support_level": 5,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3219,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 3219,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458358.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.3189delA",
"hgvs_p": "p.Lys1063fs",
"transcript": "NM_001365529.2",
"protein_id": "NP_001352458.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3189,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365529.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2892delA",
"hgvs_p": "p.Lys964fs",
"transcript": "ENST00000715295.1",
"protein_id": "ENSP00000520448.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 977,
"cds_start": 2892,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715295.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.735delA",
"hgvs_p": "p.Lys245fs",
"transcript": "ENST00000416789.1",
"protein_id": "ENSP00000388435.1",
"transcript_support_level": 3,
"aa_start": 245,
"aa_end": null,
"aa_length": 258,
"cds_start": 735,
"cds_end": null,
"cds_length": 777,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416789.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2892delA",
"hgvs_p": "p.Lys964fs",
"transcript": "XM_017004005.2",
"protein_id": "XP_016859494.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 977,
"cds_start": 2892,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004005.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.2847delA",
"hgvs_p": "p.Lys949fs",
"transcript": "XM_017004006.2",
"protein_id": "XP_016859495.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 962,
"cds_start": 2847,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 3142,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004006.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "NM_001365530.2",
"protein_id": "NP_001352459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": null,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365530.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "ENST00000874110.1",
"protein_id": "ENSP00000544169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1049,
"cds_start": null,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "ENST00000874112.1",
"protein_id": "ENSP00000544171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1029,
"cds_start": null,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "ENST00000874111.1",
"protein_id": "ENSP00000544170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1015,
"cds_start": null,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "ENST00000953156.1",
"protein_id": "ENSP00000623215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": null,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953156.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "NM_001316306.2",
"protein_id": "NP_001303235.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": null,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316306.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "ENST00000409532.5",
"protein_id": "ENSP00000386614.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": null,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409532.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"hgvs_c": "c.*142delA",
"hgvs_p": null,
"transcript": "ENST00000874109.1",
"protein_id": "ENSP00000544168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 917,
"cds_start": null,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874109.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITGA6-AS1",
"gene_hgnc_id": 40308,
"hgvs_c": "n.626+8131delT",
"hgvs_p": null,
"transcript": "ENST00000442417.5",
"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": 950,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000442417.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PDK1-AS1",
"gene_hgnc_id": 40441,
"hgvs_c": "n.562-7977delT",
"hgvs_p": null,
"transcript": "NR_199670.1",
"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": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199670.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDK1-AS1",
"gene_hgnc_id": 40441,
"hgvs_c": "n.377-8687delT",
"hgvs_p": null,
"transcript": "NR_199671.1",
"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": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199671.1"
}
],
"gene_symbol": "ITGA6",
"gene_hgnc_id": 6142,
"dbsnp": "rs201055917",
"frequency_reference_population": 0.0000031640323,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000279742,
"gnomad_genomes_af": 0.00000665009,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.723,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001394928.1",
"gene_symbol": "ITGA6",
"hgnc_id": 6142,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3351delA",
"hgvs_p": "p.Lys1117fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442417.5",
"gene_symbol": "ITGA6-AS1",
"hgnc_id": 40308,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.626+8131delT",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_186177.1",
"gene_symbol": "PDK1-AS1",
"hgnc_id": 40441,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.561+8131delT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}