← 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: 1-31728621-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31728621&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 31728621,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000373658.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "NM_001364857.2",
"protein_id": "NP_001351786.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 5040,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": "ENST00000373658.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "ENST00000373658.8",
"protein_id": "ENSP00000362762.3",
"transcript_support_level": 5,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 5040,
"cdna_end": null,
"cdna_length": 5708,
"mane_select": "NM_001364857.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "ENST00000373655.6",
"protein_id": "ENSP00000362759.2",
"transcript_support_level": 1,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 4735,
"cdna_end": null,
"cdna_length": 5400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4294C>T",
"hgvs_p": "p.Arg1432Trp",
"transcript": "ENST00000527361.5",
"protein_id": "ENSP00000435397.1",
"transcript_support_level": 1,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4332,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "NM_001294335.2",
"protein_id": "NP_001281264.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 5040,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4357C>T",
"hgvs_p": "p.Arg1453Trp",
"transcript": "ENST00000398538.5",
"protein_id": "ENSP00000381548.1",
"transcript_support_level": 5,
"aa_start": 1453,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4357,
"cds_end": null,
"cds_length": 4665,
"cdna_start": 4358,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4294C>T",
"hgvs_p": "p.Arg1432Trp",
"transcript": "NM_001294336.2",
"protein_id": "NP_001281265.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4941,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4138C>T",
"hgvs_p": "p.Arg1380Trp",
"transcript": "ENST00000398556.7",
"protein_id": "ENSP00000381564.3",
"transcript_support_level": 5,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1500,
"cds_start": 4138,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 4211,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4192C>T",
"hgvs_p": "p.Arg1398Trp",
"transcript": "ENST00000398547.5",
"protein_id": "ENSP00000381555.1",
"transcript_support_level": 5,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 4246,
"cdna_end": null,
"cdna_length": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4093C>T",
"hgvs_p": "p.Arg1365Trp",
"transcript": "ENST00000398542.5",
"protein_id": "ENSP00000381550.1",
"transcript_support_level": 5,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4093,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 4565,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "XM_017001899.2",
"protein_id": "XP_016857388.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 5140,
"cdna_end": null,
"cdna_length": 5808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "XM_047426173.1",
"protein_id": "XP_047282129.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4758,
"cdna_start": 4882,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "XM_017001900.2",
"protein_id": "XP_016857389.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1584,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 4819,
"cdna_end": null,
"cdna_length": 5484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4357C>T",
"hgvs_p": "p.Arg1453Trp",
"transcript": "XM_024448673.2",
"protein_id": "XP_024304441.1",
"transcript_support_level": null,
"aa_start": 1453,
"aa_end": null,
"aa_length": 1573,
"cds_start": 4357,
"cds_end": null,
"cds_length": 4722,
"cdna_start": 4810,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "XM_017001901.2",
"protein_id": "XP_016857390.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 4819,
"cdna_end": null,
"cdna_length": 5430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp",
"transcript": "XM_017001902.2",
"protein_id": "XP_016857391.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1565,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4698,
"cdna_start": 4820,
"cdna_end": null,
"cdna_length": 5428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4324C>T",
"hgvs_p": "p.Arg1442Trp",
"transcript": "XM_017001903.2",
"protein_id": "XP_016857392.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4324,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4294C>T",
"hgvs_p": "p.Arg1432Trp",
"transcript": "XM_047426178.1",
"protein_id": "XP_047282134.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1552,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4659,
"cdna_start": 4941,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4294C>T",
"hgvs_p": "p.Arg1432Trp",
"transcript": "XM_017001905.2",
"protein_id": "XP_016857394.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4719,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4294C>T",
"hgvs_p": "p.Arg1432Trp",
"transcript": "XM_017001906.2",
"protein_id": "XP_016857395.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1533,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4602,
"cdna_start": 4719,
"cdna_end": null,
"cdna_length": 5330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4294C>T",
"hgvs_p": "p.Arg1432Trp",
"transcript": "XM_047426179.1",
"protein_id": "XP_047282135.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1532,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4720,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4228C>T",
"hgvs_p": "p.Arg1410Trp",
"transcript": "XM_017001908.2",
"protein_id": "XP_016857397.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4228,
"cds_end": null,
"cds_length": 4593,
"cdna_start": 4653,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4228C>T",
"hgvs_p": "p.Arg1410Trp",
"transcript": "XM_047426180.1",
"protein_id": "XP_047282136.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4228,
"cds_end": null,
"cds_length": 4593,
"cdna_start": 4875,
"cdna_end": null,
"cdna_length": 5543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4228C>T",
"hgvs_p": "p.Arg1410Trp",
"transcript": "XM_047426181.1",
"protein_id": "XP_047282137.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1530,
"cds_start": 4228,
"cds_end": null,
"cds_length": 4593,
"cdna_start": 4717,
"cdna_end": null,
"cdna_length": 5385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4228C>T",
"hgvs_p": "p.Arg1410Trp",
"transcript": "XM_047426182.1",
"protein_id": "XP_047282138.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1529,
"cds_start": 4228,
"cds_end": null,
"cds_length": 4590,
"cdna_start": 4653,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4228C>T",
"hgvs_p": "p.Arg1410Trp",
"transcript": "XM_017001909.2",
"protein_id": "XP_016857398.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4228,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 4654,
"cdna_end": null,
"cdna_length": 5265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4228C>T",
"hgvs_p": "p.Arg1410Trp",
"transcript": "XM_047426183.1",
"protein_id": "XP_047282139.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4228,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 4654,
"cdna_end": null,
"cdna_length": 5262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4225C>T",
"hgvs_p": "p.Arg1409Trp",
"transcript": "XM_047426184.1",
"protein_id": "XP_047282140.1",
"transcript_support_level": null,
"aa_start": 1409,
"aa_end": null,
"aa_length": 1510,
"cds_start": 4225,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 4652,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4225C>T",
"hgvs_p": "p.Arg1409Trp",
"transcript": "XM_047426185.1",
"protein_id": "XP_047282141.1",
"transcript_support_level": null,
"aa_start": 1409,
"aa_end": null,
"aa_length": 1509,
"cds_start": 4225,
"cds_end": null,
"cds_length": 4530,
"cdna_start": 4652,
"cdna_end": null,
"cdna_length": 5260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4129C>T",
"hgvs_p": "p.Arg1377Trp",
"transcript": "XM_017001910.2",
"protein_id": "XP_016857399.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4553,
"cdna_end": null,
"cdna_length": 5221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4129C>T",
"hgvs_p": "p.Arg1377Trp",
"transcript": "XM_047426186.1",
"protein_id": "XP_047282142.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 4776,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4093C>T",
"hgvs_p": "p.Arg1365Trp",
"transcript": "XM_047426187.1",
"protein_id": "XP_047282143.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4093,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 4565,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4129C>T",
"hgvs_p": "p.Arg1377Trp",
"transcript": "XM_017001911.2",
"protein_id": "XP_016857400.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1478,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4437,
"cdna_start": 4554,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4063C>T",
"hgvs_p": "p.Arg1355Trp",
"transcript": "XM_017001912.2",
"protein_id": "XP_016857401.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1475,
"cds_start": 4063,
"cds_end": null,
"cds_length": 4428,
"cdna_start": 4487,
"cdna_end": null,
"cdna_length": 5155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4093C>T",
"hgvs_p": "p.Arg1365Trp",
"transcript": "XM_047426188.1",
"protein_id": "XP_047282144.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1466,
"cds_start": 4093,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 7872,
"cdna_end": null,
"cdna_length": 8483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4060C>T",
"hgvs_p": "p.Arg1354Trp",
"transcript": "XM_047426189.1",
"protein_id": "XP_047282145.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 4486,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.4060C>T",
"hgvs_p": "p.Arg1354Trp",
"transcript": "XM_047426190.1",
"protein_id": "XP_047282146.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4486,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "c.3484C>T",
"hgvs_p": "p.Arg1162Trp",
"transcript": "XM_011541858.3",
"protein_id": "XP_011540160.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3484,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 4012,
"cdna_end": null,
"cdna_length": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "n.1850C>T",
"hgvs_p": null,
"transcript": "ENST00000465256.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"hgvs_c": "n.1106C>T",
"hgvs_p": null,
"transcript": "ENST00000530999.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADGRB2",
"gene_hgnc_id": 944,
"dbsnp": "rs778361520",
"frequency_reference_population": 0.000003717767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000205225,
"gnomad_genomes_af": 0.0000197285,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5716536045074463,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.287,
"revel_prediction": "Benign",
"alphamissense_score": 0.8998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.529,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000373658.8",
"gene_symbol": "ADGRB2",
"hgnc_id": 944,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4393C>T",
"hgvs_p": "p.Arg1465Trp"
}
],
"clinvar_disease": "Progressive spastic paraparesis",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Progressive spastic paraparesis",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}