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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: 1-202297508-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202297508&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202297508,
"ref": "A",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001017403.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "NM_001017403.2",
"protein_id": "NP_001017403.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 967,
"cds_start": 717,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367278.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017403.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "ENST00000367278.8",
"protein_id": "ENSP00000356247.3",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 967,
"cds_start": 717,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017403.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367278.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.561A>T",
"hgvs_p": "p.Leu187Leu",
"transcript": "ENST00000255432.11",
"protein_id": "ENSP00000255432.7",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 915,
"cds_start": 561,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255432.11"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.300A>T",
"hgvs_p": "p.Leu100Leu",
"transcript": "ENST00000439764.2",
"protein_id": "ENSP00000387869.2",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 828,
"cds_start": 300,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439764.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "ENST00000904634.1",
"protein_id": "ENSP00000574693.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1014,
"cds_start": 717,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904634.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "ENST00000904651.1",
"protein_id": "ENSP00000574710.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1004,
"cds_start": 717,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904651.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.645A>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000904646.1",
"protein_id": "ENSP00000574705.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 990,
"cds_start": 645,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904646.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.645A>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000956149.1",
"protein_id": "ENSP00000626208.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 990,
"cds_start": 645,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956149.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "ENST00000904636.1",
"protein_id": "ENSP00000574695.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 960,
"cds_start": 717,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904636.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.645A>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000904633.1",
"protein_id": "ENSP00000574692.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 943,
"cds_start": 645,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904633.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.645A>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000904637.1",
"protein_id": "ENSP00000574696.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 943,
"cds_start": 645,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904637.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "ENST00000904639.1",
"protein_id": "ENSP00000574698.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 943,
"cds_start": 717,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904639.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "ENST00000904650.1",
"protein_id": "ENSP00000574709.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 943,
"cds_start": 717,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904650.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.645A>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000904647.1",
"protein_id": "ENSP00000574706.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 942,
"cds_start": 645,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904647.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.573A>T",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000956150.1",
"protein_id": "ENSP00000626209.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 942,
"cds_start": 573,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956150.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.645A>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000904632.1",
"protein_id": "ENSP00000574691.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 919,
"cds_start": 645,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904632.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "ENST00000904640.1",
"protein_id": "ENSP00000574699.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 919,
"cds_start": 717,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904640.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.645A>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000904644.1",
"protein_id": "ENSP00000574703.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 919,
"cds_start": 645,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904644.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.573A>T",
"hgvs_p": "p.Leu191Leu",
"transcript": "ENST00000904649.1",
"protein_id": "ENSP00000574708.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 919,
"cds_start": 573,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904649.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu",
"transcript": "ENST00000956147.1",
"protein_id": "ENSP00000626206.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 919,
"cds_start": 717,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956147.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.645A>T",
"hgvs_p": "p.Leu215Leu",
"transcript": "ENST00000956148.1",
"protein_id": "ENSP00000626207.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 919,
"cds_start": 645,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956148.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
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},
{
"aa_ref": "L",
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"protein_coding": true,
"strand": true,
"consequences": [
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"synonymous_variant"
],
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"biotype": "protein_coding",
"feature": "XM_011509843.3"
},
{
"aa_ref": "L",
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"protein_coding": true,
"strand": true,
"consequences": [
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"synonymous_variant"
],
"exon_rank": 4,
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"gene_symbol": "LGR6",
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"biotype": "protein_coding",
"feature": "XM_011509846.3"
},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"exon_count": 17,
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"gene_symbol": "LGR6",
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"transcript": "ENST00000904642.1",
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"biotype": "protein_coding",
"feature": "ENST00000904642.1"
},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"exon_count": 16,
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"gene_symbol": "LGR6",
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"hgvs_c": "c.645-3341A>T",
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"transcript": "ENST00000904652.1",
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"biotype": "protein_coding",
"feature": "ENST00000904652.1"
},
{
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"protein_coding": false,
"strand": true,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"gene_symbol": "LGR6",
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"hgvs_c": "n.325A>T",
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"transcript": "ENST00000308543.3",
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"biotype": "pseudogene",
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},
{
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"strand": true,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "LGR6",
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"hgvs_c": "n.561A>T",
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"transcript": "ENST00000487787.5",
"protein_id": "ENSP00000422143.1",
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487787.5"
}
],
"gene_symbol": "LGR6",
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"dbsnp": "rs1667247829",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.014000000432133675,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.466,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000350635886943057,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001017403.2",
"gene_symbol": "LGR6",
"hgnc_id": 19719,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.717A>T",
"hgvs_p": "p.Leu239Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}