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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: 22-41898747-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41898747&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41898747,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004599.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2704G>C",
"hgvs_p": "p.Val902Leu",
"transcript": "NM_004599.4",
"protein_id": "NP_004590.2",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361204.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004599.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2704G>C",
"hgvs_p": "p.Val902Leu",
"transcript": "ENST00000361204.9",
"protein_id": "ENSP00000354476.4",
"transcript_support_level": 1,
"aa_start": 902,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004599.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361204.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "n.*749G>C",
"hgvs_p": null,
"transcript": "ENST00000424354.5",
"protein_id": "ENSP00000395728.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424354.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "n.1255G>C",
"hgvs_p": null,
"transcript": "ENST00000491541.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491541.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "n.*749G>C",
"hgvs_p": null,
"transcript": "ENST00000424354.5",
"protein_id": "ENSP00000395728.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424354.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2722G>C",
"hgvs_p": "p.Val908Leu",
"transcript": "ENST00000925855.1",
"protein_id": "ENSP00000595914.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1147,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925855.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2704G>C",
"hgvs_p": "p.Val902Leu",
"transcript": "ENST00000925851.1",
"protein_id": "ENSP00000595910.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925851.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Val900Leu",
"transcript": "ENST00000925849.1",
"protein_id": "ENSP00000595908.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2698,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925849.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2692G>C",
"hgvs_p": "p.Val898Leu",
"transcript": "ENST00000873316.1",
"protein_id": "ENSP00000543375.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2692,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873316.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2704G>C",
"hgvs_p": "p.Val902Leu",
"transcript": "ENST00000873314.1",
"protein_id": "ENSP00000543373.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873314.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2650G>C",
"hgvs_p": "p.Val884Leu",
"transcript": "ENST00000925854.1",
"protein_id": "ENSP00000595913.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2650,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925854.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2647G>C",
"hgvs_p": "p.Val883Leu",
"transcript": "ENST00000925853.1",
"protein_id": "ENSP00000595912.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925853.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2614G>C",
"hgvs_p": "p.Val872Leu",
"transcript": "ENST00000710853.1",
"protein_id": "ENSP00000518526.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1111,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710853.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2704G>C",
"hgvs_p": "p.Val902Leu",
"transcript": "ENST00000873318.1",
"protein_id": "ENSP00000543377.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1079,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873318.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2482G>C",
"hgvs_p": "p.Val828Leu",
"transcript": "ENST00000873312.1",
"protein_id": "ENSP00000543371.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2482,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873312.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2476G>C",
"hgvs_p": "p.Val826Leu",
"transcript": "ENST00000925850.1",
"protein_id": "ENSP00000595909.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2476,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925850.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2594G>C",
"hgvs_p": "p.Ser865Thr",
"transcript": "ENST00000925852.1",
"protein_id": "ENSP00000595911.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2594,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925852.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2329G>C",
"hgvs_p": "p.Val777Leu",
"transcript": "ENST00000873313.1",
"protein_id": "ENSP00000543372.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2329,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873313.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2254G>C",
"hgvs_p": "p.Val752Leu",
"transcript": "ENST00000873315.1",
"protein_id": "ENSP00000543374.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 991,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873315.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.2032G>C",
"hgvs_p": "p.Val678Leu",
"transcript": "ENST00000925848.1",
"protein_id": "ENSP00000595907.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 917,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925848.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.1810G>C",
"hgvs_p": "p.Val604Leu",
"transcript": "ENST00000873311.1",
"protein_id": "ENSP00000543370.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 843,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873311.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"hgvs_c": "c.70G>C",
"hgvs_p": "p.Val24Leu",
"transcript": "ENST00000435061.1",
"protein_id": "ENSP00000412287.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 255,
"cds_start": 70,
"cds_end": null,
"cds_length": 768,
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{
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},
{
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],
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},
{
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],
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"gene_symbol": "SREBF2",
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},
{
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"strand": true,
"consequences": [
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],
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{
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],
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"feature": "NR_103834.2"
},
{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "SREBF2",
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"transcript": "XR_001755276.3",
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"biotype": "pseudogene",
"feature": "XR_001755276.3"
}
],
"gene_symbol": "SREBF2",
"gene_hgnc_id": 11290,
"dbsnp": "rs17848351",
"frequency_reference_population": 0.000390292,
"hom_count_reference_population": 3,
"allele_count_reference_population": 630,
"gnomad_exomes_af": 0.000385811,
"gnomad_genomes_af": 0.000433293,
"gnomad_exomes_ac": 564,
"gnomad_genomes_ac": 66,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009077608585357666,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.2688,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.253,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004599.4",
"gene_symbol": "SREBF2",
"hgnc_id": 11290,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2704G>C",
"hgvs_p": "p.Val902Leu"
}
],
"clinvar_disease": "SREBF2-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SREBF2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}