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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: 10-101479389-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101479389&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101479389,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033637.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Leu86Phe",
"transcript": "NM_033637.4",
"protein_id": "NP_378663.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 605,
"cds_start": 256,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370187.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033637.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Leu86Phe",
"transcript": "ENST00000370187.8",
"protein_id": "ENSP00000359206.3",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 605,
"cds_start": 256,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033637.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370187.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.178C>T",
"hgvs_p": "p.Leu60Phe",
"transcript": "ENST00000393441.8",
"protein_id": "ENSP00000377088.5",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 579,
"cds_start": 178,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393441.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Leu50Phe",
"transcript": "ENST00000408038.6",
"protein_id": "ENSP00000385339.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 569,
"cds_start": 148,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408038.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Leu117Phe",
"transcript": "ENST00000861880.1",
"protein_id": "ENSP00000531939.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 636,
"cds_start": 349,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861880.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Leu86Phe",
"transcript": "ENST00000953682.1",
"protein_id": "ENSP00000623741.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 626,
"cds_start": 256,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953682.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.271C>T",
"hgvs_p": "p.Leu91Phe",
"transcript": "ENST00000861881.1",
"protein_id": "ENSP00000531940.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 610,
"cds_start": 271,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861881.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Leu81Phe",
"transcript": "ENST00000861879.1",
"protein_id": "ENSP00000531938.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 600,
"cds_start": 241,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861879.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.178C>T",
"hgvs_p": "p.Leu60Phe",
"transcript": "NM_001256856.2",
"protein_id": "NP_001243785.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 579,
"cds_start": 178,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256856.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Leu55Phe",
"transcript": "ENST00000924128.1",
"protein_id": "ENSP00000594187.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 574,
"cds_start": 163,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924128.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Leu50Phe",
"transcript": "NM_003939.5",
"protein_id": "NP_003930.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 569,
"cds_start": 148,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003939.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Leu24Phe",
"transcript": "ENST00000861882.1",
"protein_id": "ENSP00000531941.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 543,
"cds_start": 70,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861882.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Leu68Phe",
"transcript": "ENST00000370183.2",
"protein_id": "ENSP00000359202.2",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 190,
"cds_start": 202,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370183.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Leu213Phe",
"transcript": "XM_006718054.3",
"protein_id": "XP_006718117.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 732,
"cds_start": 637,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718054.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Leu187Phe",
"transcript": "XM_017016870.2",
"protein_id": "XP_016872359.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 706,
"cds_start": 559,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016870.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Leu68Phe",
"transcript": "XM_017016871.2",
"protein_id": "XP_016872360.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 587,
"cds_start": 202,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016871.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Leu68Phe",
"transcript": "XM_017016873.3",
"protein_id": "XP_016872362.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 587,
"cds_start": 202,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016873.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Leu42Phe",
"transcript": "XM_047425983.1",
"protein_id": "XP_047281939.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 561,
"cds_start": 124,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425983.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.124C>T",
"hgvs_p": "p.Leu42Phe",
"transcript": "XM_047425984.1",
"protein_id": "XP_047281940.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 561,
"cds_start": 124,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425984.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Leu24Phe",
"transcript": "XM_017016874.2",
"protein_id": "XP_016872363.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 543,
"cds_start": 70,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016874.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.637C>T",
"hgvs_p": "p.Leu213Phe",
"transcript": "XM_047425987.1",
"protein_id": "XP_047281943.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 374,
"cds_start": 637,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425987.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.-42C>T",
"hgvs_p": null,
"transcript": "XM_024448247.2",
"protein_id": "XP_024304015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448247.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.-42C>T",
"hgvs_p": null,
"transcript": "XM_047425985.1",
"protein_id": "XP_047281941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.-42C>T",
"hgvs_p": null,
"transcript": "XM_047425986.1",
"protein_id": "XP_047281942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "c.234+17331C>T",
"hgvs_p": null,
"transcript": "ENST00000861883.1",
"protein_id": "ENSP00000531942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "n.203C>T",
"hgvs_p": null,
"transcript": "ENST00000465182.1",
"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": "ENST00000465182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"hgvs_c": "n.385C>T",
"hgvs_p": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475200.5"
}
],
"gene_symbol": "BTRC",
"gene_hgnc_id": 1144,
"dbsnp": "rs144139485",
"frequency_reference_population": 0.0002665688,
"hom_count_reference_population": 0,
"allele_count_reference_population": 430,
"gnomad_exomes_af": 0.000282706,
"gnomad_genomes_af": 0.000111688,
"gnomad_exomes_ac": 413,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14764606952667236,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.46,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_033637.4",
"gene_symbol": "BTRC",
"hgnc_id": 1144,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Leu86Phe"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}