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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: 2-131038853-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=131038853&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 131038853,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001367493.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.4126C>G",
"hgvs_p": "p.Leu1376Val",
"transcript": "NM_001367493.1",
"protein_id": "NP_001354422.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1876,
"cds_start": 4126,
"cds_end": null,
"cds_length": 5631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409359.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367493.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.4126C>G",
"hgvs_p": "p.Leu1376Val",
"transcript": "ENST00000409359.7",
"protein_id": "ENSP00000386794.3",
"transcript_support_level": 5,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1876,
"cds_start": 4126,
"cds_end": null,
"cds_length": 5631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367493.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409359.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Leu214Val",
"transcript": "ENST00000392953.8",
"protein_id": "ENSP00000376680.5",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 694,
"cds_start": 640,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392953.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.355C>G",
"hgvs_p": "p.Leu119Val",
"transcript": "ENST00000355771.7",
"protein_id": "ENSP00000348017.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 619,
"cds_start": 355,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355771.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.4126C>G",
"hgvs_p": "p.Leu1376Val",
"transcript": "ENST00000918336.1",
"protein_id": "ENSP00000588395.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1865,
"cds_start": 4126,
"cds_end": null,
"cds_length": 5598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918336.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.4126C>G",
"hgvs_p": "p.Leu1376Val",
"transcript": "ENST00000918335.1",
"protein_id": "ENSP00000588394.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1827,
"cds_start": 4126,
"cds_end": null,
"cds_length": 5484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918335.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Leu205Val",
"transcript": "NM_001375900.1",
"protein_id": "NP_001362829.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 705,
"cds_start": 613,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375900.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Leu190Val",
"transcript": "NM_015320.4",
"protein_id": "NP_056135.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 690,
"cds_start": 568,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015320.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Leu190Val",
"transcript": "ENST00000326016.10",
"protein_id": "ENSP00000316845.5",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 690,
"cds_start": 568,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326016.10"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Leu205Val",
"transcript": "ENST00000918337.1",
"protein_id": "ENSP00000588396.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 656,
"cds_start": 613,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918337.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Leu153Val",
"transcript": "NM_001375901.1",
"protein_id": "NP_001362830.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 653,
"cds_start": 457,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375901.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.415C>G",
"hgvs_p": "p.Leu139Val",
"transcript": "NM_001375902.1",
"protein_id": "NP_001362831.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 639,
"cds_start": 415,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375902.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Leu190Val",
"transcript": "ENST00000611048.4",
"protein_id": "ENSP00000483548.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 630,
"cds_start": 568,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611048.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.358C>G",
"hgvs_p": "p.Leu120Val",
"transcript": "NM_001375903.1",
"protein_id": "NP_001362832.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 620,
"cds_start": 358,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375903.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val",
"transcript": "NM_001375904.1",
"protein_id": "NP_001362833.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 567,
"cds_start": 199,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375904.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.199C>G",
"hgvs_p": "p.Leu67Val",
"transcript": "ENST00000409303.6",
"protein_id": "ENSP00000387285.2",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 516,
"cds_start": 199,
"cds_end": null,
"cds_length": 1552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409303.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.-54C>G",
"hgvs_p": null,
"transcript": "NM_001395416.1",
"protein_id": "NP_001382345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM39",
"gene_hgnc_id": 54076,
"hgvs_c": "c.*27C>G",
"hgvs_p": null,
"transcript": "ENST00000635976.2",
"protein_id": "ENSP00000490782.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635976.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM39",
"gene_hgnc_id": 54076,
"hgvs_c": "c.*27C>G",
"hgvs_p": null,
"transcript": "ENST00000710632.1",
"protein_id": "ENSP00000518387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM39",
"gene_hgnc_id": 54076,
"hgvs_c": "c.*27C>G",
"hgvs_p": null,
"transcript": "ENST00000710633.1",
"protein_id": "ENSP00000518388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 7,
"cds_start": null,
"cds_end": null,
"cds_length": 24,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710633.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF4",
"gene_hgnc_id": 684,
"hgvs_c": "c.-54C>G",
"hgvs_p": null,
"transcript": "NM_001395416.1",
"protein_id": "NP_001382345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMIM39",
"gene_hgnc_id": 54076,
"hgvs_c": "c.*27C>G",
"hgvs_p": null,
"transcript": "ENST00000635976.2",
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{
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{
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{
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],
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{
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],
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{
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],
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"feature": "ENST00000428230.6"
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{
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"consequences": [
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"non_coding_transcript_exon_variant"
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"biotype": "pseudogene",
"feature": "ENST00000528247.2"
},
{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ARHGEF4",
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"biotype": "nonsense_mediated_decay",
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{
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"strand": true,
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"3_prime_UTR_variant"
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636987.1"
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],
"gene_symbol": "ARHGEF4",
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"dbsnp": "rs746590401",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
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"gnomad_genomes_af": 0.00000656944,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3948940336704254,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5659999847412109,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.461,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.933,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.834576285324938,
"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367493.1",
"gene_symbol": "ARHGEF4",
"hgnc_id": 684,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Leu1376Val"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000710632.1",
"gene_symbol": "SMIM39",
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"effects": [
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*27C>G",
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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
}