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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: 7-74068657-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74068657&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74068657,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000252034.12",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Gly711Asp",
"transcript": "NM_000501.4",
"protein_id": "NP_000492.2",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 724,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "ENST00000252034.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Gly711Asp",
"transcript": "ENST00000252034.12",
"protein_id": "ENSP00000252034.7",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 724,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "NM_000501.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Gly717Asp",
"transcript": "ENST00000380562.8",
"protein_id": "ENSP00000369936.4",
"transcript_support_level": 1,
"aa_start": 717,
"aa_end": null,
"aa_length": 730,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2102G>A",
"hgvs_p": "p.Gly701Asp",
"transcript": "ENST00000458204.5",
"protein_id": "ENSP00000403162.1",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 714,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Gly698Asp",
"transcript": "ENST00000357036.9",
"protein_id": "ENSP00000349540.5",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 711,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Gly692Asp",
"transcript": "ENST00000380576.9",
"protein_id": "ENSP00000369950.5",
"transcript_support_level": 1,
"aa_start": 692,
"aa_end": null,
"aa_length": 705,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Gly664Asp",
"transcript": "ENST00000380575.8",
"protein_id": "ENSP00000369949.4",
"transcript_support_level": 1,
"aa_start": 664,
"aa_end": null,
"aa_length": 677,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Gly645Asp",
"transcript": "ENST00000380584.8",
"protein_id": "ENSP00000369958.4",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 658,
"cds_start": 1934,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2318G>A",
"hgvs_p": "p.Gly773Asp",
"transcript": "NM_001278939.2",
"protein_id": "NP_001265868.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 786,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2318G>A",
"hgvs_p": "p.Gly773Asp",
"transcript": "ENST00000692049.1",
"protein_id": "ENSP00000510104.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 786,
"cds_start": 2318,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2231G>A",
"hgvs_p": "p.Gly744Asp",
"transcript": "ENST00000320399.10",
"protein_id": "ENSP00000313565.6",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 757,
"cds_start": 2231,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2150G>A",
"hgvs_p": "p.Gly717Asp",
"transcript": "NM_001278915.2",
"protein_id": "NP_001265844.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 730,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2102G>A",
"hgvs_p": "p.Gly701Asp",
"transcript": "NM_001278917.2",
"protein_id": "NP_001265846.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 714,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2093G>A",
"hgvs_p": "p.Gly698Asp",
"transcript": "NM_001081754.3",
"protein_id": "NP_001075223.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 711,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2078G>A",
"hgvs_p": "p.Gly693Asp",
"transcript": "NM_001278912.2",
"protein_id": "NP_001265841.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 706,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2078G>A",
"hgvs_p": "p.Gly693Asp",
"transcript": "ENST00000445912.5",
"protein_id": "ENSP00000389857.1",
"transcript_support_level": 2,
"aa_start": 693,
"aa_end": null,
"aa_length": 706,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2477,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Gly692Asp",
"transcript": "NM_001081755.3",
"protein_id": "NP_001075224.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 705,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2060G>A",
"hgvs_p": "p.Gly687Asp",
"transcript": "NM_001278914.2",
"protein_id": "NP_001265843.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 700,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2060G>A",
"hgvs_p": "p.Gly687Asp",
"transcript": "ENST00000414324.5",
"protein_id": "ENSP00000392575.1",
"transcript_support_level": 2,
"aa_start": 687,
"aa_end": null,
"aa_length": 700,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Gly679Asp",
"transcript": "NM_001081753.3",
"protein_id": "NP_001075222.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 692,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Gly679Asp",
"transcript": "ENST00000429192.5",
"protein_id": "ENSP00000391129.1",
"transcript_support_level": 2,
"aa_start": 679,
"aa_end": null,
"aa_length": 692,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Gly664Asp",
"transcript": "NM_001081752.3",
"protein_id": "NP_001075221.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 677,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2006,
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"cds_start": 1997,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Gly666Asp",
"transcript": "XM_047419979.1",
"protein_id": "XP_047275935.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 679,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Gly664Asp",
"transcript": "XM_047419980.1",
"protein_id": "XP_047275936.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 677,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"dbsnp": "rs41511151",
"frequency_reference_population": 0.004250529,
"hom_count_reference_population": 17,
"allele_count_reference_population": 6861,
"gnomad_exomes_af": 0.00436429,
"gnomad_genomes_af": 0.00315849,
"gnomad_exomes_ac": 6380,
"gnomad_genomes_ac": 481,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011181652545928955,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.048,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0068574144413714,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000252034.12",
"gene_symbol": "ELN",
"hgnc_id": 3327,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2132G>A",
"hgvs_p": "p.Gly711Asp"
}
],
"clinvar_disease": " autosomal dominant,Cutis laxa,Supravalvar aortic stenosis,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7 B:2",
"phenotype_combined": "not specified|Cutis laxa, autosomal dominant|Supravalvar aortic stenosis|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}