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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: 9-112041882-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=112041882&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 112041882,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022486.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2228C>G",
"hgvs_p": "p.Ser743Cys",
"transcript": "NM_022486.5",
"protein_id": "NP_071931.2",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 747,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": "ENST00000374270.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022486.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2228C>G",
"hgvs_p": "p.Ser743Cys",
"transcript": "ENST00000374270.8",
"protein_id": "ENSP00000363388.4",
"transcript_support_level": 1,
"aa_start": 743,
"aa_end": null,
"aa_length": 747,
"cds_start": 2228,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": "NM_022486.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374270.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "ENST00000374264.6",
"protein_id": "ENSP00000363382.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374264.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2225C>G",
"hgvs_p": "p.Ser742Cys",
"transcript": "ENST00000861057.1",
"protein_id": "ENSP00000531116.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 746,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861057.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2147C>G",
"hgvs_p": "p.Ser716Cys",
"transcript": "ENST00000861056.1",
"protein_id": "ENSP00000531115.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 720,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861056.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2141C>G",
"hgvs_p": "p.Ser714Cys",
"transcript": "ENST00000861059.1",
"protein_id": "ENSP00000531118.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 718,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861059.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2072C>G",
"hgvs_p": "p.Ser691Cys",
"transcript": "ENST00000960398.1",
"protein_id": "ENSP00000630457.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 695,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960398.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2048C>G",
"hgvs_p": "p.Ser683Cys",
"transcript": "ENST00000931618.1",
"protein_id": "ENSP00000601677.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 687,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931618.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2048C>G",
"hgvs_p": "p.Ser683Cys",
"transcript": "ENST00000960399.1",
"protein_id": "ENSP00000630458.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 687,
"cds_start": 2048,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960399.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1949C>G",
"hgvs_p": "p.Ser650Cys",
"transcript": "ENST00000861058.1",
"protein_id": "ENSP00000531117.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 654,
"cds_start": 1949,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861058.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1769C>G",
"hgvs_p": "p.Ser590Cys",
"transcript": "ENST00000861054.1",
"protein_id": "ENSP00000531113.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 594,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861054.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.1739C>G",
"hgvs_p": "p.Ser580Cys",
"transcript": "ENST00000861055.1",
"protein_id": "ENSP00000531114.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 584,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861055.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2267C>G",
"hgvs_p": "p.Ser756Cys",
"transcript": "XM_011518916.3",
"protein_id": "XP_011517218.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 760,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518916.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2186C>G",
"hgvs_p": "p.Ser729Cys",
"transcript": "XM_017015037.2",
"protein_id": "XP_016870526.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 733,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015037.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.2147C>G",
"hgvs_p": "p.Ser716Cys",
"transcript": "XM_047423727.1",
"protein_id": "XP_047279683.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 720,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "NM_001282640.2",
"protein_id": "NP_001269569.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282640.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "NM_001282643.2",
"protein_id": "NP_001269572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": null,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282643.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "ENST00000374263.7",
"protein_id": "ENSP00000363381.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": null,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374263.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "ENST00000355396.7",
"protein_id": "ENSP00000347558.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": null,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355396.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "XM_047423724.1",
"protein_id": "XP_047279680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": null,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "XM_047423725.1",
"protein_id": "XP_047279681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423725.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "XM_047423726.1",
"protein_id": "XP_047279682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": null,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423726.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
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"hgvs_c": "c.*19C>G",
"hgvs_p": null,
"transcript": "XM_047423728.1",
"protein_id": "XP_047279684.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": null,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423728.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "n.*180C>G",
"hgvs_p": null,
"transcript": "ENST00000475283.2",
"protein_id": "ENSP00000431590.2",
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475283.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "n.*180C>G",
"hgvs_p": null,
"transcript": "ENST00000475283.2",
"protein_id": "ENSP00000431590.2",
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"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475283.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299696",
"gene_hgnc_id": null,
"hgvs_c": "n.377-1421G>C",
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"transcript": "ENST00000765698.1",
"protein_id": null,
"transcript_support_level": null,
"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": 638,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000765698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "n.*4C>G",
"hgvs_p": null,
"transcript": "XR_007061338.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061338.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"hgvs_c": "n.*5C>G",
"hgvs_p": null,
"transcript": "XR_007061340.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061340.1"
}
],
"gene_symbol": "SUSD1",
"gene_hgnc_id": 25413,
"dbsnp": "rs1827755518",
"frequency_reference_population": 6.8420417e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84204e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5024807453155518,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.398,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1148,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.351,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022486.5",
"gene_symbol": "SUSD1",
"hgnc_id": 25413,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2228C>G",
"hgvs_p": "p.Ser743Cys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000765698.1",
"gene_symbol": "ENSG00000299696",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.377-1421G>C",
"hgvs_p": null
}
],
"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
}