← 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: 21-45940118-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45940118&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 45940118,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001348240.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001384156.1",
"protein_id": "NP_001371085.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000681687.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384156.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "ENST00000681687.1",
"protein_id": "ENSP00000505796.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384156.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681687.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Met",
"transcript": "ENST00000400304.1",
"protein_id": "ENSP00000383159.1",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 361,
"cds_start": 968,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400304.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Thr307Met",
"transcript": "ENST00000400308.5",
"protein_id": "ENSP00000383163.1",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 345,
"cds_start": 920,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400308.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_001348240.2",
"protein_id": "NP_001335169.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 394,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348240.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_001382279.1",
"protein_id": "NP_001369208.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 394,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382279.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.1064C>T",
"hgvs_p": "p.Thr355Met",
"transcript": "NM_001348239.2",
"protein_id": "NP_001335168.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 393,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348239.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Thr344Met",
"transcript": "NM_001348241.2",
"protein_id": "NP_001335170.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 382,
"cds_start": 1031,
"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": "NM_001348241.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Thr335Met",
"transcript": "NM_001348245.2",
"protein_id": "NP_001335174.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 373,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348245.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382277.1",
"protein_id": "NP_001369206.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382277.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382281.1",
"protein_id": "NP_001369210.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382281.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382282.1",
"protein_id": "NP_001369211.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382282.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382283.1",
"protein_id": "NP_001369212.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382283.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382284.1",
"protein_id": "NP_001369213.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382284.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382285.1",
"protein_id": "NP_001369214.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382285.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382286.1",
"protein_id": "NP_001369215.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382286.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382287.1",
"protein_id": "NP_001369216.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382287.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_001382288.1",
"protein_id": "NP_001369217.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382288.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "NM_020528.3",
"protein_id": "NP_065389.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020528.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Thr333Met",
"transcript": "ENST00000400314.5",
"protein_id": "ENSP00000383168.1",
"transcript_support_level": 5,
"aa_start": 333,
"aa_end": null,
"aa_length": 371,
"cds_start": 998,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400314.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Met",
"transcript": "NM_001348238.2",
"protein_id": "NP_001335167.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 370,
"cds_start": 995,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348238.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Met",
"transcript": "NM_001382278.1",
"protein_id": "NP_001369207.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 370,
"cds_start": 995,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382278.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Thr332Met",
"transcript": "ENST00000400309.5",
"protein_id": "ENSP00000383164.1",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 370,
"cds_start": 995,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400309.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Met",
"transcript": "ENST00000449640.5",
"protein_id": "ENSP00000401198.2",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 361,
"cds_start": 968,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449640.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Thr319Met",
"transcript": "ENST00000909830.1",
"protein_id": "ENSP00000579889.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 357,
"cds_start": 956,
"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": "ENST00000909830.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Thr319Met",
"transcript": "ENST00000909833.1",
"protein_id": "ENSP00000579892.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 357,
"cds_start": 956,
"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": "ENST00000909833.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Thr318Met",
"transcript": "ENST00000965786.1",
"protein_id": "ENSP00000635845.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 356,
"cds_start": 953,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965786.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Thr313Met",
"transcript": "NM_001348244.2",
"protein_id": "NP_001335173.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 351,
"cds_start": 938,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348244.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Thr313Met",
"transcript": "ENST00000400310.5",
"protein_id": "ENSP00000383165.1",
"transcript_support_level": 2,
"aa_start": 313,
"aa_end": null,
"aa_length": 351,
"cds_start": 938,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400310.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Met",
"transcript": "NM_001348243.2",
"protein_id": "NP_001335172.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 350,
"cds_start": 935,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348243.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Thr307Met",
"transcript": "NM_001130141.2",
"protein_id": "NP_001123613.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 345,
"cds_start": 920,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130141.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Thr301Met",
"transcript": "NM_001348242.2",
"protein_id": "NP_001335171.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 339,
"cds_start": 902,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348242.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Thr301Met",
"transcript": "NM_001382276.1",
"protein_id": "NP_001369205.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 339,
"cds_start": 902,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382276.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.893C>T",
"hgvs_p": "p.Thr298Met",
"transcript": "ENST00000965783.1",
"protein_id": "ENSP00000635842.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 336,
"cds_start": 893,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965783.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Met",
"transcript": "ENST00000909831.1",
"protein_id": "ENSP00000579890.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 332,
"cds_start": 881,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909831.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Met",
"transcript": "ENST00000909832.1",
"protein_id": "ENSP00000579891.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 332,
"cds_start": 881,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909832.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Met",
"transcript": "ENST00000922168.1",
"protein_id": "ENSP00000592227.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 332,
"cds_start": 881,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922168.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Thr294Met",
"transcript": "ENST00000965784.1",
"protein_id": "ENSP00000635843.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 332,
"cds_start": 881,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965784.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Thr284Met",
"transcript": "ENST00000400305.5",
"protein_id": "ENSP00000383160.1",
"transcript_support_level": 5,
"aa_start": 284,
"aa_end": null,
"aa_length": 322,
"cds_start": 851,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400305.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Thr255Met",
"transcript": "ENST00000965785.1",
"protein_id": "ENSP00000635844.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 293,
"cds_start": 764,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965785.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.620C>T",
"hgvs_p": "p.Thr207Met",
"transcript": "ENST00000909834.1",
"protein_id": "ENSP00000579893.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 245,
"cds_start": 620,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909834.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Thr71Met",
"transcript": "ENST00000922169.1",
"protein_id": "ENSP00000592228.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 109,
"cds_start": 212,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922169.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "n.748C>T",
"hgvs_p": null,
"transcript": "ENST00000468429.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000468429.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "n.241C>T",
"hgvs_p": null,
"transcript": "ENST00000475402.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000475402.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "n.1413C>T",
"hgvs_p": null,
"transcript": "NR_145492.2",
"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_145492.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "n.1236C>T",
"hgvs_p": null,
"transcript": "NR_145493.2",
"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_145493.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"hgvs_c": "n.1453C>T",
"hgvs_p": null,
"transcript": "NR_189734.1",
"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_189734.1"
}
],
"gene_symbol": "PCBP3",
"gene_hgnc_id": 8651,
"dbsnp": "rs375465014",
"frequency_reference_population": 0.00007558167,
"hom_count_reference_population": 0,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.0000677254,
"gnomad_genomes_af": 0.000150956,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02944415807723999,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
"alphamissense_score": 0.0622,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.627,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001348240.2",
"gene_symbol": "PCBP3",
"hgnc_id": 8651,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met"
}
],
"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
}