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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: 5-142932048-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=142932048&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 142932048,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001135608.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Pro344Ser",
"transcript": "NM_001135608.3",
"protein_id": "NP_001129080.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 759,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 9226,
"mane_select": "ENST00000645722.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Pro344Ser",
"transcript": "ENST00000645722.2",
"protein_id": "ENSP00000495131.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 759,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 9226,
"mane_select": "NM_001135608.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Pro344Ser",
"transcript": "ENST00000274498.9",
"protein_id": "ENSP00000274498.4",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 814,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 9395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Pro344Ser",
"transcript": "NM_015071.6",
"protein_id": "NP_055886.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 814,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 9395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Pro308Ser",
"transcript": "NM_001349547.2",
"protein_id": "NP_001336476.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 686,
"cds_start": 922,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 8729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Pro308Ser",
"transcript": "ENST00000642734.1",
"protein_id": "ENSP00000495827.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 686,
"cds_start": 922,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Pro45Ser",
"transcript": "ENST00000469131.6",
"protein_id": "ENSP00000493847.1",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 160,
"cds_start": 133,
"cds_end": null,
"cds_length": 485,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Pro45Ser",
"transcript": "ENST00000451259.1",
"protein_id": "ENSP00000411571.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 90,
"cds_start": 133,
"cds_end": null,
"cds_length": 275,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Pro344Ser",
"transcript": "XM_047416970.1",
"protein_id": "XP_047272926.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 816,
"cds_start": 1030,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Pro323Ser",
"transcript": "XM_047416974.1",
"protein_id": "XP_047272930.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 795,
"cds_start": 967,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Pro323Ser",
"transcript": "XM_047416975.1",
"protein_id": "XP_047272931.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 793,
"cds_start": 967,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1252,
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"cdna_length": 9232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Pro308Ser",
"transcript": "XM_047416966.1",
"protein_id": "XP_047272922.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 780,
"cds_start": 922,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1025,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Pro308Ser",
"transcript": "XM_047416967.1",
"protein_id": "XP_047272923.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 779,
"cds_start": 922,
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"cdna_start": 1025,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
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"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Pro307Ser",
"transcript": "XM_047416977.1",
"protein_id": "XP_047272933.1",
"transcript_support_level": null,
"aa_start": 307,
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"cds_start": 919,
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"cdna_start": 4057,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Pro308Ser",
"transcript": "XM_005268398.6",
"protein_id": "XP_005268455.2",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
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"cds_start": 922,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"missense_variant",
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],
"exon_rank": 11,
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"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Pro308Ser",
"transcript": "XM_047416969.1",
"protein_id": "XP_047272925.1",
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"aa_start": 308,
"aa_end": null,
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"cds_start": 922,
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"cdna_start": 1025,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Pro323Ser",
"transcript": "XM_047416980.1",
"protein_id": "XP_047272936.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 748,
"cds_start": 967,
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"cdna_start": 1249,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Pro323Ser",
"transcript": "XM_047416982.1",
"protein_id": "XP_047272938.1",
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},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": true,
"consequences": [
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"splice_region_variant"
],
"exon_rank": 12,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Pro264Ser",
"transcript": "XM_047416983.1",
"protein_id": "XP_047272939.1",
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"cds_start": 790,
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"cdna_start": 1996,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Pro264Ser",
"transcript": "XM_047416984.1",
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Pro264Ser",
"transcript": "XM_047416985.1",
"protein_id": "XP_047272941.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 736,
"cds_start": 790,
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"cds_length": 2211,
"cdna_start": 1567,
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"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Pro264Ser",
"transcript": "XM_047416990.1",
"protein_id": "XP_047272946.1",
"transcript_support_level": null,
"aa_start": 264,
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"aa_length": 736,
"cds_start": 790,
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"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"hgvs_c": "n.1025C>T",
"hgvs_p": null,
"transcript": "XR_007058593.1",
"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": 2391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGAP26",
"gene_hgnc_id": 17073,
"dbsnp": "rs1028328735",
"frequency_reference_population": 0.0000012392295,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84134e-7,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2174082100391388,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05400000140070915,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.1129,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.85,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000167091112680724,
"dbscsnv_ada_prediction": "Benign",
"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_001135608.3",
"gene_symbol": "ARHGAP26",
"hgnc_id": 17073,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Pro344Ser"
}
],
"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
}