← 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: 2-99402912-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=99402912&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 99402912,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321454.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3361G>A",
"hgvs_p": "p.Gly1121Arg",
"transcript": "NM_016316.4",
"protein_id": "NP_057400.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258428.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016316.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3361G>A",
"hgvs_p": "p.Gly1121Arg",
"transcript": "ENST00000258428.8",
"protein_id": "ENSP00000258428.3",
"transcript_support_level": 1,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016316.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258428.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3358G>A",
"hgvs_p": "p.Gly1120Arg",
"transcript": "ENST00000393445.7",
"protein_id": "ENSP00000377091.3",
"transcript_support_level": 1,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393445.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3469G>A",
"hgvs_p": "p.Gly1157Arg",
"transcript": "NM_001321454.2",
"protein_id": "NP_001308383.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321454.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3469G>A",
"hgvs_p": "p.Gly1157Arg",
"transcript": "ENST00000879664.1",
"protein_id": "ENSP00000549723.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879664.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3466G>A",
"hgvs_p": "p.Gly1156Arg",
"transcript": "ENST00000879665.1",
"protein_id": "ENSP00000549724.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3466,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879665.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3361G>A",
"hgvs_p": "p.Gly1121Arg",
"transcript": "ENST00000879663.1",
"protein_id": "ENSP00000549722.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879663.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3361G>A",
"hgvs_p": "p.Gly1121Arg",
"transcript": "ENST00000920279.1",
"protein_id": "ENSP00000590338.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920279.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3358G>A",
"hgvs_p": "p.Gly1120Arg",
"transcript": "NM_001037872.3",
"protein_id": "NP_001032961.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037872.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3358G>A",
"hgvs_p": "p.Gly1120Arg",
"transcript": "ENST00000920275.1",
"protein_id": "ENSP00000590334.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920275.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3358G>A",
"hgvs_p": "p.Gly1120Arg",
"transcript": "ENST00000949065.1",
"protein_id": "ENSP00000619124.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949065.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3328G>A",
"hgvs_p": "p.Gly1110Arg",
"transcript": "ENST00000920281.1",
"protein_id": "ENSP00000590340.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3328,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920281.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3250G>A",
"hgvs_p": "p.Gly1084Arg",
"transcript": "ENST00000920280.1",
"protein_id": "ENSP00000590339.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3250,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920280.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Gly1069Arg",
"transcript": "ENST00000879666.1",
"protein_id": "ENSP00000549725.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879666.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3148G>A",
"hgvs_p": "p.Gly1050Arg",
"transcript": "NM_001321455.2",
"protein_id": "NP_001308384.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3148,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321455.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3133G>A",
"hgvs_p": "p.Gly1045Arg",
"transcript": "ENST00000949066.1",
"protein_id": "ENSP00000619125.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949066.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2980G>A",
"hgvs_p": "p.Gly994Arg",
"transcript": "ENST00000920278.1",
"protein_id": "ENSP00000590337.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1124,
"cds_start": 2980,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920278.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Gly776Arg",
"transcript": "ENST00000920276.1",
"protein_id": "ENSP00000590335.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 906,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920276.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Gly776Arg",
"transcript": "ENST00000949067.1",
"protein_id": "ENSP00000619126.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 906,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949067.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.2218G>A",
"hgvs_p": "p.Gly740Arg",
"transcript": "ENST00000920277.1",
"protein_id": "ENSP00000590336.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 870,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920277.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Gly631Arg",
"transcript": "NM_001321458.2",
"protein_id": "NP_001308387.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 761,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321458.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Gly598Arg",
"transcript": "NM_001321459.2",
"protein_id": "NP_001308388.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 728,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321459.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Gly598Arg",
"transcript": "NM_001321460.2",
"protein_id": "NP_001308389.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 728,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321460.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3793G>A",
"hgvs_p": "p.Gly1265Arg",
"transcript": "XM_017004310.2",
"protein_id": "XP_016859799.2",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1395,
"cds_start": 3793,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004310.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Gly1264Arg",
"transcript": "XM_047444717.1",
"protein_id": "XP_047300673.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444717.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3685G>A",
"hgvs_p": "p.Gly1229Arg",
"transcript": "XM_047444718.1",
"protein_id": "XP_047300674.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3685,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444718.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3682G>A",
"hgvs_p": "p.Gly1228Arg",
"transcript": "XM_017004313.2",
"protein_id": "XP_016859802.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3682,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004313.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3499G>A",
"hgvs_p": "p.Gly1167Arg",
"transcript": "XM_017004309.3",
"protein_id": "XP_016859798.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3499,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004309.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3469G>A",
"hgvs_p": "p.Gly1157Arg",
"transcript": "XM_017004311.2",
"protein_id": "XP_016859800.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004311.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3466G>A",
"hgvs_p": "p.Gly1156Arg",
"transcript": "XM_017004312.3",
"protein_id": "XP_016859801.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3466,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004312.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3466G>A",
"hgvs_p": "p.Gly1156Arg",
"transcript": "XM_047444719.1",
"protein_id": "XP_047300675.1",
"transcript_support_level": null,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3466,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444719.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Gly1131Arg",
"transcript": "XM_047444720.1",
"protein_id": "XP_047300676.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3391,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444720.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3361G>A",
"hgvs_p": "p.Gly1121Arg",
"transcript": "XM_047444721.1",
"protein_id": "XP_047300677.1",
"transcript_support_level": null,
"aa_start": 1121,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3361,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444721.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3358G>A",
"hgvs_p": "p.Gly1120Arg",
"transcript": "XM_047444723.1",
"protein_id": "XP_047300679.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3358,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444723.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.3259G>A",
"hgvs_p": "p.Gly1087Arg",
"transcript": "XM_047444724.1",
"protein_id": "XP_047300680.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1217,
"cds_start": 3259,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444724.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Gly631Arg",
"transcript": "XM_011511341.3",
"protein_id": "XP_011509643.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 761,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511341.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.*3305G>A",
"hgvs_p": null,
"transcript": "ENST00000413697.5",
"protein_id": "ENSP00000416274.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000413697.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.519G>A",
"hgvs_p": null,
"transcript": "ENST00000465086.1",
"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": "retained_intron",
"feature": "ENST00000465086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.3769G>A",
"hgvs_p": null,
"transcript": "NR_135649.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135649.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.3726G>A",
"hgvs_p": null,
"transcript": "NR_135650.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135650.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.3403G>A",
"hgvs_p": null,
"transcript": "NR_135651.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135651.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.3572G>A",
"hgvs_p": null,
"transcript": "NR_135652.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135652.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.3406G>A",
"hgvs_p": null,
"transcript": "NR_135653.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_135653.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.*3305G>A",
"hgvs_p": null,
"transcript": "ENST00000413697.5",
"protein_id": "ENSP00000416274.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000413697.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.397-566G>A",
"hgvs_p": null,
"transcript": "ENST00000482595.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000482595.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.*144G>A",
"hgvs_p": null,
"transcript": "ENST00000465835.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000465835.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"hgvs_c": "n.*128G>A",
"hgvs_p": null,
"transcript": "ENST00000485487.5",
"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": "retained_intron",
"feature": "ENST00000485487.5"
}
],
"gene_symbol": "REV1",
"gene_hgnc_id": 14060,
"dbsnp": "rs1190636908",
"frequency_reference_population": 0.0000018588858,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136829,
"gnomad_genomes_af": 0.00000657082,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25673002004623413,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.1979,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.001,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001321454.2",
"gene_symbol": "REV1",
"hgnc_id": 14060,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3469G>A",
"hgvs_p": "p.Gly1157Arg"
}
],
"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
}