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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: 12-95022395-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95022395&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 95022395,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003297.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549Lys",
"transcript": "NM_003297.4",
"protein_id": "NP_003288.2",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 603,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333003.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003297.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549Lys",
"transcript": "ENST00000333003.10",
"protein_id": "ENSP00000333275.4",
"transcript_support_level": 2,
"aa_start": 549,
"aa_end": null,
"aa_length": 603,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003297.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333003.10"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Lys",
"transcript": "ENST00000922903.1",
"protein_id": "ENSP00000592962.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 647,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922903.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593Lys",
"transcript": "ENST00000922904.1",
"protein_id": "ENSP00000592963.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 647,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922904.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Arg588Lys",
"transcript": "ENST00000942592.1",
"protein_id": "ENSP00000612651.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 642,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942592.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549Lys",
"transcript": "ENST00000877191.1",
"protein_id": "ENSP00000547250.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 603,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877191.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549Lys",
"transcript": "ENST00000877193.1",
"protein_id": "ENSP00000547252.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 603,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877193.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Lys",
"transcript": "ENST00000877190.1",
"protein_id": "ENSP00000547249.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 599,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877190.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Lys",
"transcript": "ENST00000877195.1",
"protein_id": "ENSP00000547254.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 599,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877195.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Lys",
"transcript": "ENST00000877189.1",
"protein_id": "ENSP00000547248.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 598,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877189.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Lys",
"transcript": "ENST00000877194.1",
"protein_id": "ENSP00000547253.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 598,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877194.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Lys",
"transcript": "ENST00000877196.1",
"protein_id": "ENSP00000547255.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 594,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877196.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503Lys",
"transcript": "ENST00000877192.1",
"protein_id": "ENSP00000547251.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 557,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877192.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500Lys",
"transcript": "ENST00000942591.1",
"protein_id": "ENSP00000612650.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 554,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942591.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453Lys",
"transcript": "ENST00000877188.1",
"protein_id": "ENSP00000547247.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 507,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877188.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Arg448Lys",
"transcript": "ENST00000922902.1",
"protein_id": "ENSP00000592961.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 502,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922902.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Lys",
"transcript": "ENST00000877197.1",
"protein_id": "ENSP00000547256.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877197.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325Lys",
"transcript": "ENST00000942590.1",
"protein_id": "ENSP00000612649.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 379,
"cds_start": 974,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942590.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Lys",
"transcript": "XM_005269133.3",
"protein_id": "XP_005269190.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 598,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269133.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503Lys",
"transcript": "XM_006719584.3",
"protein_id": "XP_006719647.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 557,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719584.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Asp514Asn",
"transcript": "XM_011538716.3",
"protein_id": "XP_011537018.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 521,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538716.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Asp509Asn",
"transcript": "XM_047429494.1",
"protein_id": "XP_047285450.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 516,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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"feature": "XM_047429495.1"
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{
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],
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"gene_symbol": "NR2C1",
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"feature": "XM_006719585.3"
},
{
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"consequences": [
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],
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},
{
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"non_coding_transcript_exon_variant"
],
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{
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"biotype": "retained_intron",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
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"gene_symbol": "NR2C1",
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"hgvs_c": "n.1997G>A",
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"transcript": "ENST00000552861.5",
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"biotype": "retained_intron",
"feature": "ENST00000552861.5"
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],
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"dbsnp": "rs777227647",
"frequency_reference_population": 0.0000024976741,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.89853e-7,
"gnomad_genomes_af": 0.0000197491,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20666781067848206,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.35,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1551,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.989,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003297.4",
"gene_symbol": "NR2C1",
"hgnc_id": 7971,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549Lys"
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],
"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
}