← 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: 11-75278696-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75278696&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 75278696,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004041.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "NM_004041.5",
"protein_id": "NP_004032.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 418,
"cds_start": 531,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000420843.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004041.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000420843.7",
"protein_id": "ENSP00000409581.2",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 418,
"cds_start": 531,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004041.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420843.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000360025.7",
"protein_id": "ENSP00000353124.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 410,
"cds_start": 531,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360025.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000952726.1",
"protein_id": "ENSP00000622785.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 476,
"cds_start": 531,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952726.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000952725.1",
"protein_id": "ENSP00000622784.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 446,
"cds_start": 531,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952725.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.612G>T",
"hgvs_p": "p.Arg204Ser",
"transcript": "ENST00000862393.1",
"protein_id": "ENSP00000532452.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 445,
"cds_start": 612,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862393.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000862394.1",
"protein_id": "ENSP00000532453.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 442,
"cds_start": 531,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862394.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.612G>T",
"hgvs_p": "p.Arg204Ser",
"transcript": "ENST00000928507.1",
"protein_id": "ENSP00000598566.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 437,
"cds_start": 612,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928507.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000862395.1",
"protein_id": "ENSP00000532454.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 434,
"cds_start": 531,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862395.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "NM_020251.4",
"protein_id": "NP_064647.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 410,
"cds_start": 531,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020251.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Arg165Ser",
"transcript": "ENST00000862396.1",
"protein_id": "ENSP00000532455.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 406,
"cds_start": 495,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862396.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.510G>T",
"hgvs_p": "p.Arg170Ser",
"transcript": "ENST00000952724.1",
"protein_id": "ENSP00000622783.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 403,
"cds_start": 510,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952724.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.495G>T",
"hgvs_p": "p.Arg165Ser",
"transcript": "ENST00000862397.1",
"protein_id": "ENSP00000532456.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 398,
"cds_start": 495,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862397.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000952727.1",
"protein_id": "ENSP00000622786.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 398,
"cds_start": 531,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952727.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "ENST00000862392.1",
"protein_id": "ENSP00000532451.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 382,
"cds_start": 531,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862392.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.516G>T",
"hgvs_p": "p.Arg172Ser",
"transcript": "ENST00000532525.1",
"protein_id": "ENSP00000433171.1",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 256,
"cds_start": 516,
"cds_end": null,
"cds_length": 773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532525.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Arg1Ser",
"transcript": "ENST00000532447.5",
"protein_id": "ENSP00000436530.1",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 194,
"cds_start": 3,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532447.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.624G>T",
"hgvs_p": "p.Arg208Ser",
"transcript": "XM_017017750.1",
"protein_id": "XP_016873239.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 473,
"cds_start": 624,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017750.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.624G>T",
"hgvs_p": "p.Arg208Ser",
"transcript": "XM_017017751.1",
"protein_id": "XP_016873240.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 465,
"cds_start": 624,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017751.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.624G>T",
"hgvs_p": "p.Arg208Ser",
"transcript": "XM_011545034.2",
"protein_id": "XP_011543336.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 449,
"cds_start": 624,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545034.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "XM_017017752.3",
"protein_id": "XP_016873241.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 442,
"cds_start": 531,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017752.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.624G>T",
"hgvs_p": "p.Arg208Ser",
"transcript": "XM_011545035.2",
"protein_id": "XP_011543337.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 441,
"cds_start": 624,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545035.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.516G>T",
"hgvs_p": "p.Arg172Ser",
"transcript": "XM_017017753.1",
"protein_id": "XP_016873242.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 437,
"cds_start": 516,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017753.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser",
"transcript": "XM_017017754.3",
"protein_id": "XP_016873243.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 434,
"cds_start": 531,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017754.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "n.*365G>T",
"hgvs_p": null,
"transcript": "ENST00000524400.5",
"protein_id": "ENSP00000434196.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524400.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "n.*365G>T",
"hgvs_p": null,
"transcript": "ENST00000524400.5",
"protein_id": "ENSP00000434196.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524400.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "n.*365G>T",
"hgvs_p": null,
"transcript": "ENST00000527385.1",
"protein_id": "ENSP00000433137.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527385.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"hgvs_c": "n.*394G>T",
"hgvs_p": null,
"transcript": "ENST00000533609.5",
"protein_id": "ENSP00000436352.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000533609.5"
}
],
"gene_symbol": "ARRB1",
"gene_hgnc_id": 711,
"dbsnp": "rs992873734",
"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": 0.09192365407943726,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.2691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.117,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 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_004041.5",
"gene_symbol": "ARRB1",
"hgnc_id": 711,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.531G>T",
"hgvs_p": "p.Arg177Ser"
}
],
"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
}