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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: 10-101521685-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101521685&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101521685,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_033637.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.371G>A",
"hgvs_p": "p.Arg124Gln",
"transcript": "NM_033637.4",
"protein_id": "NP_378663.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 605,
"cds_start": 371,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 6024,
"mane_select": "ENST00000370187.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033637.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.371G>A",
"hgvs_p": "p.Arg124Gln",
"transcript": "ENST00000370187.8",
"protein_id": "ENSP00000359206.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 605,
"cds_start": 371,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 6024,
"mane_select": "NM_033637.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370187.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "ENST00000393441.8",
"protein_id": "ENSP00000377088.5",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 579,
"cds_start": 293,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 6084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393441.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88Gln",
"transcript": "ENST00000408038.6",
"protein_id": "ENSP00000385339.2",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 569,
"cds_start": 263,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 5982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408038.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155Gln",
"transcript": "ENST00000861880.1",
"protein_id": "ENSP00000531939.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 636,
"cds_start": 464,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 6201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861880.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"transcript": "ENST00000953682.1",
"protein_id": "ENSP00000623741.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 626,
"cds_start": 434,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953682.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129Gln",
"transcript": "ENST00000861881.1",
"protein_id": "ENSP00000531940.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 610,
"cds_start": 386,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861881.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Arg119Gln",
"transcript": "ENST00000861879.1",
"protein_id": "ENSP00000531938.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 600,
"cds_start": 356,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861879.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "NM_001256856.2",
"protein_id": "NP_001243785.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 579,
"cds_start": 293,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256856.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000861883.1",
"protein_id": "ENSP00000531942.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 575,
"cds_start": 281,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861883.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.278G>A",
"hgvs_p": "p.Arg93Gln",
"transcript": "ENST00000924128.1",
"protein_id": "ENSP00000594187.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 574,
"cds_start": 278,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924128.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88Gln",
"transcript": "NM_003939.5",
"protein_id": "NP_003930.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 569,
"cds_start": 263,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 5916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003939.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Gln",
"transcript": "ENST00000861882.1",
"protein_id": "ENSP00000531941.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 543,
"cds_start": 185,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861882.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"transcript": "ENST00000370183.2",
"protein_id": "ENSP00000359202.2",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 190,
"cds_start": 317,
"cds_end": null,
"cds_length": 573,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370183.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251Gln",
"transcript": "XM_006718054.3",
"protein_id": "XP_006718117.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 732,
"cds_start": 752,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718054.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "XM_017016870.2",
"protein_id": "XP_016872359.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 706,
"cds_start": 674,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016870.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"transcript": "XM_017016871.2",
"protein_id": "XP_016872360.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 587,
"cds_start": 317,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 6047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016871.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.317G>A",
"hgvs_p": "p.Arg106Gln",
"transcript": "XM_017016873.3",
"protein_id": "XP_016872362.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 587,
"cds_start": 317,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 6075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016873.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "XM_047425983.1",
"protein_id": "XP_047281939.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425983.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"transcript": "XM_047425984.1",
"protein_id": "XP_047281940.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 561,
"cds_start": 239,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425984.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62Gln",
"transcript": "XM_017016874.2",
"protein_id": "XP_016872363.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 543,
"cds_start": 185,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016874.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.167G>A",
"hgvs_p": "p.Arg56Gln",
"transcript": "XM_011540320.3",
"protein_id": "XP_011538622.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 537,
"cds_start": 167,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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"gene_symbol": "BTRC",
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"aa_start": 25,
"aa_end": null,
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"cds_start": 74,
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"cdna_start": 486,
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"mane_select": null,
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"feature": "XM_024448247.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 15,
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"gene_symbol": "BTRC",
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"hgvs_c": "c.74G>A",
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"transcript": "XM_047425985.1",
"protein_id": "XP_047281941.1",
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"cdna_start": 410,
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"feature": "XM_047425985.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 14,
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"gene_symbol": "BTRC",
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"transcript": "XM_047425986.1",
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"cdna_start": 234,
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"cdna_length": 5871,
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"biotype": "protein_coding",
"feature": "XM_047425986.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"gene_symbol": "BTRC",
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"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251Gln",
"transcript": "XM_047425987.1",
"protein_id": "XP_047281943.1",
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"aa_end": null,
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"feature": "XM_047425987.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 6,
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"gene_symbol": "BTRC",
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"hgvs_c": "n.318G>A",
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"transcript": "ENST00000465182.1",
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"cdna_length": 685,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465182.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
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"intron_rank_end": null,
"gene_symbol": "BTRC",
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"hgvs_c": "n.500G>A",
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"transcript": "ENST00000475200.5",
"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": 527,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475200.5"
}
],
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"dbsnp": "rs1307218199",
"frequency_reference_population": 0.0000037174584,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342032,
"gnomad_genomes_af": 0.0000065722,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3310773968696594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.1355,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.078,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_033637.4",
"gene_symbol": "BTRC",
"hgnc_id": 1144,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.371G>A",
"hgvs_p": "p.Arg124Gln"
}
],
"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
}