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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: 4-25757698-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=25757698&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 25757698,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015187.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3176A>G",
"hgvs_p": "p.His1059Arg",
"transcript": "NM_015187.5",
"protein_id": "NP_056002.2",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": "ENST00000399878.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015187.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3176A>G",
"hgvs_p": "p.His1059Arg",
"transcript": "ENST00000399878.8",
"protein_id": "ENSP00000382767.3",
"transcript_support_level": 1,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1132,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": "NM_015187.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399878.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3071A>G",
"hgvs_p": "p.His1024Arg",
"transcript": "ENST00000264868.9",
"protein_id": "ENSP00000264868.5",
"transcript_support_level": 1,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264868.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3281A>G",
"hgvs_p": "p.His1094Arg",
"transcript": "ENST00000929301.1",
"protein_id": "ENSP00000599360.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929301.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3113A>G",
"hgvs_p": "p.His1038Arg",
"transcript": "ENST00000929305.1",
"protein_id": "ENSP00000599364.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3113,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929305.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3092A>G",
"hgvs_p": "p.His1031Arg",
"transcript": "ENST00000929304.1",
"protein_id": "ENSP00000599363.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3241,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929304.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3071A>G",
"hgvs_p": "p.His1024Arg",
"transcript": "NM_001297592.2",
"protein_id": "NP_001284521.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3071,
"cds_end": null,
"cds_length": 3294,
"cdna_start": 3125,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297592.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3062A>G",
"hgvs_p": "p.His1021Arg",
"transcript": "ENST00000960872.1",
"protein_id": "ENSP00000630931.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3064,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960872.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2996A>G",
"hgvs_p": "p.His999Arg",
"transcript": "ENST00000960871.1",
"protein_id": "ENSP00000630930.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960871.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2984A>G",
"hgvs_p": "p.His995Arg",
"transcript": "ENST00000889111.1",
"protein_id": "ENSP00000559170.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2984,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889111.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2927A>G",
"hgvs_p": "p.His976Arg",
"transcript": "ENST00000929303.1",
"protein_id": "ENSP00000599362.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1049,
"cds_start": 2927,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 4292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929303.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2873A>G",
"hgvs_p": "p.His958Arg",
"transcript": "ENST00000889110.1",
"protein_id": "ENSP00000559169.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2873,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889110.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2747A>G",
"hgvs_p": "p.His916Arg",
"transcript": "ENST00000929302.1",
"protein_id": "ENSP00000599361.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 989,
"cds_start": 2747,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929302.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2717A>G",
"hgvs_p": "p.His906Arg",
"transcript": "NM_001297594.2",
"protein_id": "NP_001284523.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 979,
"cds_start": 2717,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297594.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2717A>G",
"hgvs_p": "p.His906Arg",
"transcript": "ENST00000502949.5",
"protein_id": "ENSP00000425438.1",
"transcript_support_level": 2,
"aa_start": 906,
"aa_end": null,
"aa_length": 979,
"cds_start": 2717,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 3118,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502949.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2345A>G",
"hgvs_p": "p.His782Arg",
"transcript": "ENST00000889112.1",
"protein_id": "ENSP00000559171.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 855,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889112.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.254A>G",
"hgvs_p": "p.His85Arg",
"transcript": "ENST00000510448.5",
"protein_id": "ENSP00000421701.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 129,
"cds_start": 254,
"cds_end": null,
"cds_length": 390,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510448.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.3176A>G",
"hgvs_p": "p.His1059Arg",
"transcript": "XM_011513819.3",
"protein_id": "XP_011512121.2",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3176,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3328,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513819.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2717A>G",
"hgvs_p": "p.His906Arg",
"transcript": "XM_024453953.2",
"protein_id": "XP_024309721.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 950,
"cds_start": 2717,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 3147,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453953.2"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.2293-9163A>G",
"hgvs_p": null,
"transcript": "ENST00000960870.1",
"protein_id": "ENSP00000630929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960870.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "c.357-92A>G",
"hgvs_p": null,
"transcript": "ENST00000507618.1",
"protein_id": "ENSP00000426050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"hgvs_c": "n.155A>G",
"hgvs_p": null,
"transcript": "ENST00000512286.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000512286.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 25,
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"transcript": "XR_001741182.3",
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"cdna_length": 6719,
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"biotype": "pseudogene",
"feature": "XR_001741182.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "SEL1L3",
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"transcript": "XR_007096387.1",
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"cdna_length": 4290,
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"biotype": "pseudogene",
"feature": "XR_007096387.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 25,
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"gene_symbol": "SEL1L3",
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"biotype": "pseudogene",
"feature": "XR_007096388.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 25,
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"gene_symbol": "SEL1L3",
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"transcript": "XR_007096389.1",
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"aa_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6900,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007096389.1"
}
],
"gene_symbol": "SEL1L3",
"gene_hgnc_id": 29108,
"dbsnp": "rs747401359",
"frequency_reference_population": 0.000008799696,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000903226,
"gnomad_genomes_af": 0.00000659291,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.153140127658844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.119,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.886,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015187.5",
"gene_symbol": "SEL1L3",
"hgnc_id": 29108,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3176A>G",
"hgvs_p": "p.His1059Arg"
}
],
"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
}