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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: 3-66380715-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=66380715&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 66380715,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015541.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2917G>A",
"hgvs_p": "p.Glu973Lys",
"transcript": "NM_015541.3",
"protein_id": "NP_056356.2",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273261.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015541.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2917G>A",
"hgvs_p": "p.Glu973Lys",
"transcript": "ENST00000273261.8",
"protein_id": "ENSP00000273261.3",
"transcript_support_level": 1,
"aa_start": 973,
"aa_end": null,
"aa_length": 1093,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015541.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273261.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2848G>A",
"hgvs_p": "p.Glu950Lys",
"transcript": "ENST00000383703.3",
"protein_id": "ENSP00000373208.3",
"transcript_support_level": 1,
"aa_start": 950,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383703.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.*1309C>T",
"hgvs_p": null,
"transcript": "ENST00000464350.6",
"protein_id": "ENSP00000432574.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000464350.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.*1309C>T",
"hgvs_p": null,
"transcript": "ENST00000464350.6",
"protein_id": "ENSP00000432574.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000464350.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2992G>A",
"hgvs_p": "p.Glu998Lys",
"transcript": "ENST00000895940.1",
"protein_id": "ENSP00000565999.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895940.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2980G>A",
"hgvs_p": "p.Glu994Lys",
"transcript": "ENST00000930929.1",
"protein_id": "ENSP00000600988.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2980,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930929.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2851G>A",
"hgvs_p": "p.Glu951Lys",
"transcript": "ENST00000895945.1",
"protein_id": "ENSP00000566004.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2851,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895945.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Glu949Lys",
"transcript": "ENST00000895935.1",
"protein_id": "ENSP00000565994.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895935.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Glu949Lys",
"transcript": "ENST00000895937.1",
"protein_id": "ENSP00000565996.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895937.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Glu948Lys",
"transcript": "NM_001377344.1",
"protein_id": "NP_001364273.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377344.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Glu948Lys",
"transcript": "ENST00000895934.1",
"protein_id": "ENSP00000565993.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2842,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895934.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2836G>A",
"hgvs_p": "p.Glu946Lys",
"transcript": "ENST00000895938.1",
"protein_id": "ENSP00000565997.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895938.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2836G>A",
"hgvs_p": "p.Glu946Lys",
"transcript": "ENST00000895943.1",
"protein_id": "ENSP00000566002.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895943.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2779G>A",
"hgvs_p": "p.Glu927Lys",
"transcript": "ENST00000895936.1",
"protein_id": "ENSP00000565995.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2779,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895936.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2776G>A",
"hgvs_p": "p.Glu926Lys",
"transcript": "ENST00000895941.1",
"protein_id": "ENSP00000566000.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895941.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2773G>A",
"hgvs_p": "p.Glu925Lys",
"transcript": "ENST00000895933.1",
"protein_id": "ENSP00000565992.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2773,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895933.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2773G>A",
"hgvs_p": "p.Glu925Lys",
"transcript": "ENST00000895946.1",
"protein_id": "ENSP00000566005.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2773,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895946.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Glu924Lys",
"transcript": "ENST00000895939.1",
"protein_id": "ENSP00000565998.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895939.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Glu924Lys",
"transcript": "ENST00000930939.1",
"protein_id": "ENSP00000600998.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930939.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2704G>A",
"hgvs_p": "p.Glu902Lys",
"transcript": "ENST00000930932.1",
"protein_id": "ENSP00000600991.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2704,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930932.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2701G>A",
"hgvs_p": "p.Glu901Lys",
"transcript": "ENST00000930936.1",
"protein_id": "ENSP00000600995.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1021,
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"protein_id": "XP_016861624.2",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 665,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006135.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "n.1933G>A",
"hgvs_p": null,
"transcript": "ENST00000495037.1",
"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": "pseudogene",
"feature": "ENST00000495037.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "n.2299G>A",
"hgvs_p": null,
"transcript": "ENST00000496559.6",
"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": "pseudogene",
"feature": "ENST00000496559.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.*905C>T",
"hgvs_p": null,
"transcript": "ENST00000691461.1",
"protein_id": "ENSP00000510022.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691461.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.*905C>T",
"hgvs_p": null,
"transcript": "ENST00000691461.1",
"protein_id": "ENSP00000510022.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000691461.1"
}
],
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"dbsnp": "rs142768185",
"frequency_reference_population": 0.000094171526,
"hom_count_reference_population": 0,
"allele_count_reference_population": 152,
"gnomad_exomes_af": 0.000101924,
"gnomad_genomes_af": 0.0000197101,
"gnomad_exomes_ac": 149,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10587802529335022,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.0971,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.539,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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_015541.3",
"gene_symbol": "LRIG1",
"hgnc_id": 17360,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2917G>A",
"hgvs_p": "p.Glu973Lys"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000464350.6",
"gene_symbol": "SLC25A26",
"hgnc_id": 20661,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*1309C>T",
"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
}