← 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: 8-58147182-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=58147182&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 58147182,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_147189.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "NM_001377989.1",
"protein_id": "NP_001364918.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": "ENST00000519262.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377989.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000519262.6",
"protein_id": "ENSP00000509301.1",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": "NM_001377989.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519262.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "NM_001377997.1",
"protein_id": "NP_001364926.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377997.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "NM_001377998.1",
"protein_id": "NP_001364927.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377998.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "NM_147189.4",
"protein_id": "NP_671722.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147189.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000361488.7",
"protein_id": "ENSP00000355204.3",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361488.7"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000898541.1",
"protein_id": "ENSP00000568600.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898541.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000898542.1",
"protein_id": "ENSP00000568601.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898542.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000898543.1",
"protein_id": "ENSP00000568602.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898543.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000898544.1",
"protein_id": "ENSP00000568603.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898544.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000898545.1",
"protein_id": "ENSP00000568604.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898545.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000898546.1",
"protein_id": "ENSP00000568605.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898546.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000898547.1",
"protein_id": "ENSP00000568606.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898547.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969870.1",
"protein_id": "ENSP00000639929.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969870.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969871.1",
"protein_id": "ENSP00000639930.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969871.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969872.1",
"protein_id": "ENSP00000639931.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969872.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969873.1",
"protein_id": "ENSP00000639932.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969873.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969874.1",
"protein_id": "ENSP00000639933.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969874.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969875.1",
"protein_id": "ENSP00000639934.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969875.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969876.1",
"protein_id": "ENSP00000639935.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969876.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969877.1",
"protein_id": "ENSP00000639936.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969877.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969878.1",
"protein_id": "ENSP00000639937.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969878.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969879.1",
"protein_id": "ENSP00000639938.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969879.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "ENST00000969880.1",
"protein_id": "ENSP00000639939.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969880.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "XM_017013948.2",
"protein_id": "XP_016869437.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013948.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg",
"transcript": "XM_047422400.1",
"protein_id": "XP_047278356.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 370,
"cds_start": 952,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422400.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "n.427-50649T>C",
"hgvs_p": null,
"transcript": "ENST00000520369.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 1518,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000520369.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"hgvs_c": "n.226-42136T>C",
"hgvs_p": null,
"transcript": "ENST00000523486.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 586,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000523486.5"
}
],
"gene_symbol": "FAM110B",
"gene_hgnc_id": 28587,
"dbsnp": "rs775788505",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5605999231338501,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
"alphamissense_score": 0.8814,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.909,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_147189.4",
"gene_symbol": "FAM110B",
"hgnc_id": 28587,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Cys318Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}