← Back to variant description
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: 11-64207420-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64207420&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64207420,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000345728.10",
"consequences": [
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "NM_031471.6",
"protein_id": "NP_113659.3",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": "ENST00000345728.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000345728.10",
"protein_id": "ENSP00000339950.5",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": "NM_031471.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000279227.10",
"protein_id": "ENSP00000279227.5",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 667,
"cds_start": 56,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698865.1",
"protein_id": "ENSP00000513992.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 670,
"cds_start": 56,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "NM_001382362.1",
"protein_id": "NP_001369291.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 667,
"cds_start": 56,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "NM_178443.3",
"protein_id": "NP_848537.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 667,
"cds_start": 56,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698860.1",
"protein_id": "ENSP00000513988.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 667,
"cds_start": 56,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "NM_001382361.1",
"protein_id": "NP_001369290.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "NM_001382448.1",
"protein_id": "NP_001369377.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000544997.6",
"protein_id": "ENSP00000445778.2",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698852.1",
"protein_id": "ENSP00000513984.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698861.1",
"protein_id": "ENSP00000513989.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698863.1",
"protein_id": "ENSP00000513991.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698870.1",
"protein_id": "ENSP00000513996.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 663,
"cds_start": 56,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698878.1",
"protein_id": "ENSP00000514000.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 661,
"cds_start": 56,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698868.1",
"protein_id": "ENSP00000513994.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 618,
"cds_start": 56,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln",
"transcript": "ENST00000698869.1",
"protein_id": "ENSP00000513995.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 585,
"cds_start": 56,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.150G>A",
"hgvs_p": null,
"transcript": "ENST00000546255.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.56G>A",
"hgvs_p": null,
"transcript": "ENST00000698845.1",
"protein_id": "ENSP00000513981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.193G>A",
"hgvs_p": null,
"transcript": "ENST00000698846.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.56G>A",
"hgvs_p": null,
"transcript": "ENST00000698847.1",
"protein_id": "ENSP00000513982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.56G>A",
"hgvs_p": null,
"transcript": "ENST00000698853.1",
"protein_id": "ENSP00000513985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.56G>A",
"hgvs_p": null,
"transcript": "ENST00000698854.1",
"protein_id": "ENSP00000513986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.220G>A",
"hgvs_p": null,
"transcript": "ENST00000698859.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.56G>A",
"hgvs_p": null,
"transcript": "ENST00000698862.1",
"protein_id": "ENSP00000513990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.162G>A",
"hgvs_p": null,
"transcript": "ENST00000698864.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.56G>A",
"hgvs_p": null,
"transcript": "ENST00000698866.1",
"protein_id": "ENSP00000513993.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.679G>A",
"hgvs_p": null,
"transcript": "ENST00000698867.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"hgvs_c": "n.313G>A",
"hgvs_p": null,
"transcript": "ENST00000698871.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FERMT3",
"gene_hgnc_id": 23151,
"dbsnp": "rs150500299",
"frequency_reference_population": 0.00007991634,
"hom_count_reference_population": 0,
"allele_count_reference_population": 129,
"gnomad_exomes_af": 0.000056093,
"gnomad_genomes_af": 0.000308541,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 47,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017477065324783325,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.371,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000345728.10",
"gene_symbol": "FERMT3",
"hgnc_id": 23151,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.56G>A",
"hgvs_p": "p.Arg19Gln"
}
],
"clinvar_disease": "Inborn genetic diseases,Leukocyte adhesion deficiency 3",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Leukocyte adhesion deficiency 3|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}