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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: 14-64249595-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64249595&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64249595,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000341099.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "NM_001437.3",
"protein_id": "NP_001428.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 530,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": "ENST00000341099.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "ENST00000341099.6",
"protein_id": "ENSP00000343925.4",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 530,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 6842,
"mane_select": "NM_001437.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "ENST00000353772.7",
"protein_id": "ENSP00000335551.4",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 495,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "ENST00000554572.5",
"protein_id": "ENSP00000450699.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 495,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "ENST00000555278.5",
"protein_id": "ENSP00000450488.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 481,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "ENST00000553796.5",
"protein_id": "ENSP00000452426.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 474,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "ENST00000557772.5",
"protein_id": "ENSP00000451582.1",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 472,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 5458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "n.*65C>G",
"hgvs_p": null,
"transcript": "ENST00000344288.10",
"protein_id": "ENSP00000345616.6",
"transcript_support_level": 1,
"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": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "n.911C>G",
"hgvs_p": null,
"transcript": "ENST00000555483.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "n.*65C>G",
"hgvs_p": null,
"transcript": "ENST00000344288.10",
"protein_id": "ENSP00000345616.6",
"transcript_support_level": 1,
"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": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.952+10854C>G",
"hgvs_p": null,
"transcript": "ENST00000267525.10",
"protein_id": "ENSP00000267525.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1518,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "n.780+10854C>G",
"hgvs_p": null,
"transcript": "ENST00000554520.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1215,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "n.218+7631C>G",
"hgvs_p": null,
"transcript": "ENST00000555783.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "ENST00000556275.5",
"protein_id": "ENSP00000452485.2",
"transcript_support_level": 2,
"aa_start": 392,
"aa_end": null,
"aa_length": 513,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "NM_001040275.1",
"protein_id": "NP_001035365.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 495,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "NM_001291712.2",
"protein_id": "NP_001278641.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 495,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "NM_001291723.1",
"protein_id": "NP_001278652.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 495,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "ENST00000358599.9",
"protein_id": "ENSP00000351412.5",
"transcript_support_level": 2,
"aa_start": 392,
"aa_end": null,
"aa_length": 495,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "NM_001214902.1",
"protein_id": "NP_001201831.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 481,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "NM_001271876.1",
"protein_id": "NP_001258805.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 474,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "XM_047431076.1",
"protein_id": "XP_047287032.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 481,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu",
"transcript": "XM_047431077.1",
"protein_id": "XP_047287033.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 474,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "n.1843C>G",
"hgvs_p": null,
"transcript": "NR_073496.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "n.1144C>G",
"hgvs_p": null,
"transcript": "NR_073497.1",
"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,
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"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.*65C>G",
"hgvs_p": null,
"transcript": "XM_047431078.1",
"protein_id": "XP_047287034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"hgvs_c": "c.952+10854C>G",
"hgvs_p": null,
"transcript": "NM_001271877.1",
"protein_id": "NP_001258806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ESR2",
"gene_hgnc_id": 3468,
"dbsnp": "rs1256054",
"frequency_reference_population": 0.0012132012,
"hom_count_reference_population": 42,
"allele_count_reference_population": 1958,
"gnomad_exomes_af": 0.00118359,
"gnomad_genomes_af": 0.00149744,
"gnomad_exomes_ac": 1730,
"gnomad_genomes_ac": 228,
"gnomad_exomes_homalt": 39,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"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": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.132,
"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": "ENST00000341099.6",
"gene_symbol": "ESR2",
"hgnc_id": 3468,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.1176C>G",
"hgvs_p": "p.Leu392Leu"
}
],
"clinvar_disease": "ESR2-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|ESR2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}