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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: 1-202280800-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202280800&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202280800,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001017403.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "NM_001017403.2",
"protein_id": "NP_001017403.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 967,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000367278.8",
"protein_id": "ENSP00000356247.3",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 967,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.508A>G",
"hgvs_p": "p.Ile170Val",
"transcript": "ENST00000255432.11",
"protein_id": "ENSP00000255432.7",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 915,
"cds_start": 508,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.300-16708A>G",
"hgvs_p": null,
"transcript": "ENST00000439764.2",
"protein_id": "ENSP00000387869.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000904634.1",
"protein_id": "ENSP00000574693.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 1014,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000904651.1",
"protein_id": "ENSP00000574710.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 1004,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Ile198Val",
"transcript": "ENST00000904646.1",
"protein_id": "ENSP00000574705.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 990,
"cds_start": 592,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000904636.1",
"protein_id": "ENSP00000574695.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 960,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000904642.1",
"protein_id": "ENSP00000574701.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 944,
"cds_start": 664,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904642.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Ile198Val",
"transcript": "ENST00000904637.1",
"protein_id": "ENSP00000574696.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 943,
"cds_start": 592,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000904639.1",
"protein_id": "ENSP00000574698.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 943,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000904650.1",
"protein_id": "ENSP00000574709.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 943,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.592A>G",
"hgvs_p": "p.Ile198Val",
"transcript": "ENST00000904632.1",
"protein_id": "ENSP00000574691.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 919,
"cds_start": 592,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000904640.1",
"protein_id": "ENSP00000574699.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 919,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.592A>G",
"hgvs_p": "p.Ile198Val",
"transcript": "ENST00000904644.1",
"protein_id": "ENSP00000574703.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 919,
"cds_start": 592,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.520A>G",
"hgvs_p": "p.Ile174Val",
"transcript": "ENST00000904649.1",
"protein_id": "ENSP00000574708.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 919,
"cds_start": 520,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000956147.1",
"protein_id": "ENSP00000626206.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 919,
"cds_start": 664,
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "ENST00000904653.1",
"protein_id": "ENSP00000574712.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 918,
"cds_start": 448,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904653.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.508A>G",
"hgvs_p": "p.Ile170Val",
"transcript": "NM_021636.3",
"protein_id": "NP_067649.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 915,
"cds_start": 508,
"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": "NM_021636.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "ENST00000904635.1",
"protein_id": "ENSP00000574694.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 895,
"cds_start": 448,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904635.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "ENST00000904641.1",
"protein_id": "ENSP00000574700.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 871,
"cds_start": 448,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904641.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"hgvs_c": "c.448A>G",
"hgvs_p": "p.Ile150Val",
"transcript": "ENST00000904648.1",
"protein_id": "ENSP00000574707.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 847,
"cds_start": 448,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
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"canonical": false,
"protein_coding": true,
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{
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],
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{
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"protein_coding": true,
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"intron_variant"
],
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"transcript": "XM_047426932.1",
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"feature": "XM_047426932.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"gene_symbol": "LGR6",
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"hgvs_c": "n.508A>G",
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"transcript": "ENST00000487787.5",
"protein_id": "ENSP00000422143.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487787.5"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
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"gene_symbol": "LGR6",
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"hgvs_c": "n.241A>G",
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"transcript": "ENST00000506931.1",
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000506931.1"
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],
"gene_symbol": "LGR6",
"gene_hgnc_id": 19719,
"dbsnp": "rs970178268",
"frequency_reference_population": 0.000013140259,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8008548021316528,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.369,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.479,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001017403.2",
"gene_symbol": "LGR6",
"hgnc_id": 19719,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Ile222Val"
}
],
"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
}