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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: 7-74060425-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74060425&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74060425,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000252034.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Val557Val",
"transcript": "NM_000501.4",
"protein_id": "NP_000492.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 724,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "ENST00000252034.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Val557Val",
"transcript": "ENST00000252034.12",
"protein_id": "ENSP00000252034.7",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 724,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": "NM_000501.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Val563Val",
"transcript": "ENST00000380562.8",
"protein_id": "ENSP00000369936.4",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 730,
"cds_start": 1689,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.Val547Val",
"transcript": "ENST00000458204.5",
"protein_id": "ENSP00000403162.1",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 714,
"cds_start": 1641,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1686C>T",
"hgvs_p": "p.Val562Val",
"transcript": "ENST00000357036.9",
"protein_id": "ENSP00000349540.5",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 711,
"cds_start": 1686,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Val538Val",
"transcript": "ENST00000380576.9",
"protein_id": "ENSP00000369950.5",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 705,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Val528Val",
"transcript": "ENST00000380575.8",
"protein_id": "ENSP00000369949.4",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 677,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1527C>T",
"hgvs_p": "p.Val509Val",
"transcript": "ENST00000380584.8",
"protein_id": "ENSP00000369958.4",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 658,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Val586Val",
"transcript": "NM_001278939.2",
"protein_id": "NP_001265868.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 786,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1758C>T",
"hgvs_p": "p.Val586Val",
"transcript": "ENST00000692049.1",
"protein_id": "ENSP00000510104.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 786,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Val557Val",
"transcript": "ENST00000320399.10",
"protein_id": "ENSP00000313565.6",
"transcript_support_level": 5,
"aa_start": 557,
"aa_end": null,
"aa_length": 757,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Val563Val",
"transcript": "NM_001278915.2",
"protein_id": "NP_001265844.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 730,
"cds_start": 1689,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.Val547Val",
"transcript": "NM_001278917.2",
"protein_id": "NP_001265846.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 714,
"cds_start": 1641,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1686C>T",
"hgvs_p": "p.Val562Val",
"transcript": "NM_001081754.3",
"protein_id": "NP_001075223.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 711,
"cds_start": 1686,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Val557Val",
"transcript": "NM_001278912.2",
"protein_id": "NP_001265841.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 706,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Val557Val",
"transcript": "ENST00000445912.5",
"protein_id": "ENSP00000389857.1",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 706,
"cds_start": 1671,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Val538Val",
"transcript": "NM_001081755.3",
"protein_id": "NP_001075224.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 705,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Val533Val",
"transcript": "NM_001278914.2",
"protein_id": "NP_001265843.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 700,
"cds_start": 1599,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Val533Val",
"transcript": "ENST00000414324.5",
"protein_id": "ENSP00000392575.1",
"transcript_support_level": 2,
"aa_start": 533,
"aa_end": null,
"aa_length": 700,
"cds_start": 1599,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Val543Val",
"transcript": "NM_001081753.3",
"protein_id": "NP_001075222.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 692,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Val543Val",
"transcript": "ENST00000429192.5",
"protein_id": "ENSP00000391129.1",
"transcript_support_level": 2,
"aa_start": 543,
"aa_end": null,
"aa_length": 692,
"cds_start": 1629,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Val528Val",
"transcript": "NM_001081752.3",
"protein_id": "NP_001075221.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 677,
"cds_start": 1584,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"hgvs_c": "c.1527C>T",
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"cds_start": 1530,
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"cds_length": 2034,
"cdna_start": 1545,
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"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELN-AS1",
"gene_hgnc_id": 40212,
"hgvs_c": "n.100-393G>A",
"hgvs_p": null,
"transcript": "ENST00000435932.3",
"protein_id": null,
"transcript_support_level": 4,
"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": 1227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELN-AS1",
"gene_hgnc_id": 40212,
"hgvs_c": "n.72-393G>A",
"hgvs_p": null,
"transcript": "NR_183555.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELN",
"gene_hgnc_id": 3327,
"dbsnp": "rs563533415",
"frequency_reference_population": 0.000034697267,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000342037,
"gnomad_genomes_af": 0.0000394405,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.305,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000252034.12",
"gene_symbol": "ELN",
"hgnc_id": 3327,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Val557Val"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000435932.3",
"gene_symbol": "ELN-AS1",
"hgnc_id": 40212,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.100-393G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Supravalvar aortic stenosis,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|Supravalvar aortic stenosis|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}