← Back to variant description
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: 14-24440205-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24440205&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24440205,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001387322.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254Trp",
"transcript": "NM_020195.3",
"protein_id": "NP_064580.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 293,
"cds_start": 760,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000399395.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020195.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Gly254Trp",
"transcript": "ENST00000399395.8",
"protein_id": "ENSP00000382327.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 293,
"cds_start": 760,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020195.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399395.8"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.436G>T",
"hgvs_p": "p.Gly146Trp",
"transcript": "ENST00000554698.5",
"protein_id": "ENSP00000452438.1",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 185,
"cds_start": 436,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554698.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "NM_015299.3",
"protein_id": "NP_056114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000553935.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015299.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000553935.6",
"protein_id": "ENSP00000450799.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015299.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553935.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000251343.9",
"protein_id": "ENSP00000251343.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251343.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "n.1068G>T",
"hgvs_p": null,
"transcript": "ENST00000544691.6",
"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": "retained_intron",
"feature": "ENST00000544691.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp",
"transcript": "NM_001387322.1",
"protein_id": "NP_001374251.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 316,
"cds_start": 829,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387322.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.793G>T",
"hgvs_p": "p.Gly265Trp",
"transcript": "NM_001387323.1",
"protein_id": "NP_001374252.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 304,
"cds_start": 793,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387323.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.754G>T",
"hgvs_p": "p.Gly252Trp",
"transcript": "NM_001387324.1",
"protein_id": "NP_001374253.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 291,
"cds_start": 754,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387324.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Gly225Trp",
"transcript": "NM_001387325.1",
"protein_id": "NP_001374254.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 264,
"cds_start": 673,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387325.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Gly212Trp",
"transcript": "NM_001387326.1",
"protein_id": "NP_001374255.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 251,
"cds_start": 634,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387326.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Gly212Trp",
"transcript": "ENST00000859574.1",
"protein_id": "ENSP00000529633.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 251,
"cds_start": 634,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859574.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Gly172Trp",
"transcript": "NM_001290292.3",
"protein_id": "NP_001277221.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 211,
"cds_start": 514,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290292.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Gly172Trp",
"transcript": "NM_001308075.2",
"protein_id": "NP_001295004.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 211,
"cds_start": 514,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308075.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Gly172Trp",
"transcript": "ENST00000538105.6",
"protein_id": "ENSP00000446077.2",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 211,
"cds_start": 514,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538105.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.436G>T",
"hgvs_p": "p.Gly146Trp",
"transcript": "NM_001290293.3",
"protein_id": "NP_001277222.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 185,
"cds_start": 436,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290293.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.436G>T",
"hgvs_p": "p.Gly146Trp",
"transcript": "NM_001387327.1",
"protein_id": "NP_001374256.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 185,
"cds_start": 436,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387327.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.526G>T",
"hgvs_p": "p.Gly176Trp",
"transcript": "ENST00000556249.1",
"protein_id": "ENSP00000450915.1",
"transcript_support_level": 3,
"aa_start": 176,
"aa_end": null,
"aa_length": 183,
"cds_start": 526,
"cds_end": null,
"cds_length": 554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556249.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.442G>T",
"hgvs_p": "p.Gly148Trp",
"transcript": "ENST00000553343.5",
"protein_id": "ENSP00000452076.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 168,
"cds_start": 442,
"cds_end": null,
"cds_length": 509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553343.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.385G>T",
"hgvs_p": "p.Gly129Trp",
"transcript": "ENST00000553930.5",
"protein_id": "ENSP00000452499.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 168,
"cds_start": 385,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553930.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.259G>T",
"hgvs_p": "p.Gly87Trp",
"transcript": "ENST00000555365.5",
"protein_id": "ENSP00000451903.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 126,
"cds_start": 259,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555365.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.259G>T",
"hgvs_p": "p.Gly87Trp",
"transcript": "ENST00000555225.5",
"protein_id": "ENSP00000451593.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 94,
"cds_start": 259,
"cds_end": null,
"cds_length": 287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555225.5"
},
{
"aa_ref": "?",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.385G>T",
"hgvs_p": "p.???129???",
"transcript": "ENST00000555355.5",
"protein_id": "ENSP00000450946.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 127,
"cds_start": 385,
"cds_end": null,
"cds_length": 386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555355.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "NM_001290256.2",
"protein_id": "NP_001277185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 719,
"cds_start": null,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290256.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "NM_001290257.2",
"protein_id": "NP_001277186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290257.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000859089.1",
"protein_id": "ENSP00000529148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859089.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000859090.1",
"protein_id": "ENSP00000529149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859090.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000859091.1",
"protein_id": "ENSP00000529150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000859092.1",
"protein_id": "ENSP00000529151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859092.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000859094.1",
"protein_id": "ENSP00000529153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859094.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000944610.1",
"protein_id": "ENSP00000614669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "ENST00000859093.1",
"protein_id": "ENSP00000529152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 644,
"cds_start": null,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859093.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "XM_011536590.3",
"protein_id": "XP_011534892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536590.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHNYN",
"gene_hgnc_id": 20166,
"hgvs_c": "c.*2920C>A",
"hgvs_p": null,
"transcript": "XM_005267474.6",
"protein_id": "XP_005267531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267474.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "n.482G>T",
"hgvs_p": null,
"transcript": "ENST00000553546.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000553546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "n.1136G>T",
"hgvs_p": null,
"transcript": "ENST00000554947.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000554947.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "n.348G>T",
"hgvs_p": null,
"transcript": "ENST00000555561.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000555561.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "n.1535G>T",
"hgvs_p": null,
"transcript": "ENST00000556262.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000556262.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "n.1899G>T",
"hgvs_p": null,
"transcript": "ENST00000556548.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000556548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "n.788G>T",
"hgvs_p": null,
"transcript": "ENST00000556707.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000556707.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"hgvs_c": "c.*59G>T",
"hgvs_p": null,
"transcript": "ENST00000556523.1",
"protein_id": "ENSP00000451275.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556523.1"
}
],
"gene_symbol": "SDR39U1",
"gene_hgnc_id": 20275,
"dbsnp": "rs372475511",
"frequency_reference_population": 0.000021687216,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000225779,
"gnomad_genomes_af": 0.0000131366,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9133869409561157,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.924,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8199,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.199,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001387322.1",
"gene_symbol": "SDR39U1",
"hgnc_id": 20275,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001290256.2",
"gene_symbol": "KHNYN",
"hgnc_id": 20166,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2920C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}