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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: 5-142873418-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=142873418&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 142873418,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001135608.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_001135608.3",
"protein_id": "NP_001129080.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 759,
"cds_start": 173,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 9226,
"mane_select": "ENST00000645722.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "ENST00000645722.2",
"protein_id": "ENSP00000495131.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 759,
"cds_start": 173,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 9226,
"mane_select": "NM_001135608.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "ENST00000274498.9",
"protein_id": "ENSP00000274498.4",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 814,
"cds_start": 173,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 9395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.-68G>T",
"hgvs_p": null,
"transcript": "XM_047416983.1",
"protein_id": "XP_047272939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.-68G>T",
"hgvs_p": null,
"transcript": "XM_047416984.1",
"protein_id": "XP_047272940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.-68G>T",
"hgvs_p": null,
"transcript": "XM_047416985.1",
"protein_id": "XP_047272941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.-68G>T",
"hgvs_p": null,
"transcript": "XM_047416990.1",
"protein_id": "XP_047272946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "NM_015071.6",
"protein_id": "NP_055886.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 814,
"cds_start": 173,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 9395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Arg22Leu",
"transcript": "NM_001349547.2",
"protein_id": "NP_001336476.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 686,
"cds_start": 65,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 8729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Arg22Leu",
"transcript": "ENST00000642734.1",
"protein_id": "ENSP00000495827.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 686,
"cds_start": 65,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu",
"transcript": "XM_047416970.1",
"protein_id": "XP_047272926.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 816,
"cds_start": 173,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047416974.1",
"protein_id": "XP_047272930.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 795,
"cds_start": 110,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 398,
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"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047416975.1",
"protein_id": "XP_047272931.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 793,
"cds_start": 110,
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"cds_length": 2382,
"cdna_start": 395,
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"cdna_length": 9232,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Arg22Leu",
"transcript": "XM_047416966.1",
"protein_id": "XP_047272922.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Arg22Leu",
"transcript": "XM_047416967.1",
"protein_id": "XP_047272923.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 779,
"cds_start": 65,
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"cdna_start": 168,
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"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Arg21Leu",
"transcript": "XM_047416977.1",
"protein_id": "XP_047272933.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Arg22Leu",
"transcript": "XM_005268398.6",
"protein_id": "XP_005268455.2",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 65,
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"cdna_start": 168,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Arg22Leu",
"transcript": "XM_047416969.1",
"protein_id": "XP_047272925.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 758,
"cds_start": 65,
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"cdna_start": 168,
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047416980.1",
"protein_id": "XP_047272936.1",
"transcript_support_level": null,
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},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.110G>T",
"hgvs_p": "p.Arg37Leu",
"transcript": "XM_047416982.1",
"protein_id": "XP_047272938.1",
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"aa_start": 37,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Arg22Leu",
"transcript": "XM_047416971.1",
"protein_id": "XP_047272927.1",
"transcript_support_level": null,
"aa_start": 22,
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"aa_length": 735,
"cds_start": 65,
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"cdna_start": 168,
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"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.65G>T",
"hgvs_p": "p.Arg22Leu",
"transcript": "XM_017009248.3",
"protein_id": "XP_016864737.2",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 733,
"cds_start": 65,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 8870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
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"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.-68G>T",
"hgvs_p": null,
"transcript": "XM_047416985.1",
"protein_id": "XP_047272941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.-68G>T",
"hgvs_p": null,
"transcript": "XM_047416990.1",
"protein_id": "XP_047272946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"dbsnp": "rs975495910",
"frequency_reference_population": 0.0000056500367,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000485876,
"gnomad_genomes_af": 0.0000131394,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7020159959793091,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.564,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5356,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.109,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001135608.3",
"gene_symbol": "ARHGAP26",
"hgnc_id": 17073,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.173G>T",
"hgvs_p": "p.Arg58Leu"
}
],
"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
}