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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: 19-51411338-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51411338&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51411338,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033130.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Ser619Gly",
"transcript": "NM_033130.5",
"protein_id": "NP_149121.2",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 697,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339313.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033130.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Ser619Gly",
"transcript": "ENST00000339313.10",
"protein_id": "ENSP00000345243.4",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 697,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033130.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339313.10"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1681A>G",
"hgvs_p": "p.Ser561Gly",
"transcript": "ENST00000439889.6",
"protein_id": "ENSP00000389132.2",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 639,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439889.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1570A>G",
"hgvs_p": "p.Ser524Gly",
"transcript": "ENST00000353836.9",
"protein_id": "ENSP00000342389.5",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 602,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353836.9"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1396A>G",
"hgvs_p": "p.Ser466Gly",
"transcript": "ENST00000441969.7",
"protein_id": "ENSP00000408387.2",
"transcript_support_level": 1,
"aa_start": 466,
"aa_end": null,
"aa_length": 544,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441969.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1711A>G",
"hgvs_p": "p.Ser571Gly",
"transcript": "ENST00000961808.1",
"protein_id": "ENSP00000631867.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 649,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961808.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1681A>G",
"hgvs_p": "p.Ser561Gly",
"transcript": "NM_001171156.2",
"protein_id": "NP_001164627.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 639,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171156.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Ser529Gly",
"transcript": "ENST00000961807.1",
"protein_id": "ENSP00000631866.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 607,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961807.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1570A>G",
"hgvs_p": "p.Ser524Gly",
"transcript": "NM_001171157.2",
"protein_id": "NP_001164628.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 602,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171157.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1426A>G",
"hgvs_p": "p.Ser476Gly",
"transcript": "NM_001171158.2",
"protein_id": "NP_001164629.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 554,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171158.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1426A>G",
"hgvs_p": "p.Ser476Gly",
"transcript": "ENST00000436984.6",
"protein_id": "ENSP00000414324.2",
"transcript_support_level": 2,
"aa_start": 476,
"aa_end": null,
"aa_length": 554,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436984.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1396A>G",
"hgvs_p": "p.Ser466Gly",
"transcript": "NM_001171159.2",
"protein_id": "NP_001164630.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 544,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171159.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Ser434Gly",
"transcript": "NM_001322105.2",
"protein_id": "NP_001309034.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 512,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322105.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1300A>G",
"hgvs_p": "p.Ser434Gly",
"transcript": "ENST00000525998.5",
"protein_id": "ENSP00000431444.1",
"transcript_support_level": 2,
"aa_start": 434,
"aa_end": null,
"aa_length": 512,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525998.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1156A>G",
"hgvs_p": "p.Ser386Gly",
"transcript": "ENST00000961809.1",
"protein_id": "ENSP00000631868.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 464,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961809.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Ser376Gly",
"transcript": "NM_001171161.2",
"protein_id": "NP_001164632.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 454,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171161.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1126A>G",
"hgvs_p": "p.Ser376Gly",
"transcript": "ENST00000442846.7",
"protein_id": "ENSP00000395475.2",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 454,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442846.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1756A>G",
"hgvs_p": "p.Ser586Gly",
"transcript": "XM_047439600.1",
"protein_id": "XP_047295556.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 664,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439600.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1711A>G",
"hgvs_p": "p.Ser571Gly",
"transcript": "XM_047439604.1",
"protein_id": "XP_047295560.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 649,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439604.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1612A>G",
"hgvs_p": "p.Ser538Gly",
"transcript": "XM_047439601.1",
"protein_id": "XP_047295557.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 616,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439601.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Ser529Gly",
"transcript": "XM_005259366.6",
"protein_id": "XP_005259423.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 607,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259366.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Ser528Gly",
"transcript": "XM_047439602.1",
"protein_id": "XP_047295558.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 606,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047439602.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
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"hgvs_p": "p.Ser491Gly",
"transcript": "XM_047439603.1",
"protein_id": "XP_047295559.1",
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"aa_start": 491,
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"aa_length": 569,
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"cds_length": 1710,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047439603.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
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"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Ser471Gly",
"transcript": "XM_005259367.5",
"protein_id": "XP_005259424.1",
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"aa_start": 471,
"aa_end": null,
"aa_length": 549,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
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"biotype": "protein_coding",
"feature": "XM_005259367.5"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SIGLEC10",
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"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Ser433Gly",
"transcript": "XM_047439605.1",
"protein_id": "XP_047295561.1",
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"aa_start": 433,
"aa_end": null,
"aa_length": 511,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047439605.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"intron_rank_end": null,
"gene_symbol": "SIGLEC10",
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"hgvs_c": "n.1743A>G",
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"transcript": "ENST00000357375.4",
"protein_id": null,
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"biotype": "retained_intron",
"feature": "ENST00000357375.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "LIM2-AS1",
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"hgvs_c": "n.341-72T>C",
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"transcript": "ENST00000738637.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000738637.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "LIM2-AS1",
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"hgvs_c": "n.256-72T>C",
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"transcript": "ENST00000738638.1",
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"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": "ENST00000738638.1"
}
],
"gene_symbol": "SIGLEC10",
"gene_hgnc_id": 15620,
"dbsnp": "rs768583087",
"frequency_reference_population": 0.000049565067,
"hom_count_reference_population": 0,
"allele_count_reference_population": 80,
"gnomad_exomes_af": 0.0000506213,
"gnomad_genomes_af": 0.0000394203,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06256908178329468,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.621,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_033130.5",
"gene_symbol": "SIGLEC10",
"hgnc_id": 15620,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Ser619Gly"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000738637.1",
"gene_symbol": "LIM2-AS1",
"hgnc_id": 56004,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.341-72T>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
}