← 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: 9-36840607-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36840607&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36840607,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_016734.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377*",
"transcript": "NM_016734.3",
"protein_id": "NP_057953.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 391,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358127.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016734.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377*",
"transcript": "ENST00000358127.9",
"protein_id": "ENSP00000350844.4",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 391,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016734.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358127.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Arg348*",
"transcript": "ENST00000377853.6",
"protein_id": "ENSP00000367084.2",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 362,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377853.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343*",
"transcript": "ENST00000377852.7",
"protein_id": "ENSP00000367083.2",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 357,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377852.7"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334*",
"transcript": "ENST00000414447.5",
"protein_id": "ENSP00000412188.1",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 348,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414447.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314*",
"transcript": "ENST00000377847.6",
"protein_id": "ENSP00000367078.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 328,
"cds_start": 940,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377847.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305*",
"transcript": "ENST00000520281.5",
"protein_id": "ENSP00000430773.1",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 319,
"cds_start": 913,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520281.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277*",
"transcript": "ENST00000446742.5",
"protein_id": "ENSP00000404687.1",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 291,
"cds_start": 829,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446742.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269*",
"transcript": "ENST00000522003.5",
"protein_id": "ENSP00000429359.1",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 283,
"cds_start": 805,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522003.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206*",
"transcript": "ENST00000523145.5",
"protein_id": "ENSP00000429197.1",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 220,
"cds_start": 616,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523145.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Arg204*",
"transcript": "ENST00000524340.5",
"protein_id": "ENSP00000429404.1",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 218,
"cds_start": 610,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524340.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45*",
"transcript": "ENST00000522932.1",
"protein_id": "ENSP00000428670.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 59,
"cds_start": 133,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522932.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.897C>T",
"hgvs_p": "p.Pro299Pro",
"transcript": "ENST00000523241.6",
"protein_id": "ENSP00000429637.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 324,
"cds_start": 897,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523241.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.810C>T",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000520154.6",
"protein_id": "ENSP00000429291.1",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 295,
"cds_start": 810,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520154.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*132C>T",
"hgvs_p": null,
"transcript": "ENST00000377840.6",
"protein_id": "ENSP00000367071.2",
"transcript_support_level": 1,
"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": "ENST00000377840.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*132C>T",
"hgvs_p": null,
"transcript": "ENST00000523493.5",
"protein_id": "ENSP00000431038.1",
"transcript_support_level": 1,
"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": "ENST00000523493.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*132C>T",
"hgvs_p": null,
"transcript": "ENST00000377840.6",
"protein_id": "ENSP00000367071.2",
"transcript_support_level": 1,
"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": "ENST00000377840.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.*132C>T",
"hgvs_p": null,
"transcript": "ENST00000523493.5",
"protein_id": "ENSP00000431038.1",
"transcript_support_level": 1,
"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": "ENST00000523493.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Arg348*",
"transcript": "NM_001280548.2",
"protein_id": "NP_001267477.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 362,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280548.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Arg343*",
"transcript": "NM_001280547.2",
"protein_id": "NP_001267476.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 357,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280547.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Arg334*",
"transcript": "NM_001280554.2",
"protein_id": "NP_001267483.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 348,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280554.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314*",
"transcript": "NM_001280552.2",
"protein_id": "NP_001267481.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 328,
"cds_start": 940,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280552.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.913C>T",
"hgvs_p": "p.Arg305*",
"transcript": "NM_001280553.2",
"protein_id": "NP_001267482.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 319,
"cds_start": 913,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280553.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277*",
"transcript": "NM_001280555.2",
"protein_id": "NP_001267484.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 291,
"cds_start": 829,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280555.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269*",
"transcript": "NM_001280556.2",
"protein_id": "NP_001267485.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 283,
"cds_start": 805,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280556.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.805C>T",
"hgvs_p": "p.Arg269*",
"transcript": "ENST00000651550.1",
"protein_id": "ENSP00000498443.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 283,
"cds_start": 805,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651550.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206*",
"transcript": "NM_001280551.2",
"protein_id": "NP_001267480.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 220,
"cds_start": 616,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280551.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.897C>T",
"hgvs_p": "p.Pro299Pro",
"transcript": "NM_001280549.2",
"protein_id": "NP_001267478.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 324,
"cds_start": 897,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280549.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "c.810C>T",
"hgvs_p": "p.Pro270Pro",
"transcript": "NM_001280550.2",
"protein_id": "NP_001267479.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 295,
"cds_start": 810,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280550.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.1236C>T",
"hgvs_p": null,
"transcript": "NR_103999.2",
"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_103999.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"hgvs_c": "n.1293C>T",
"hgvs_p": null,
"transcript": "NR_104000.2",
"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_104000.2"
}
],
"gene_symbol": "PAX5",
"gene_hgnc_id": 8619,
"dbsnp": "rs377685637",
"frequency_reference_population": 0.0000014015162,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000140152,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.998,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016734.3",
"gene_symbol": "PAX5",
"hgnc_id": 8619,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Arg377*"
}
],
"clinvar_disease": "Neurodevelopmental disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neurodevelopmental disorder|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}