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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-33522043-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=33522043&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 33522043,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_170672.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "NM_001139488.2",
"protein_id": "NP_001132960.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403687.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139488.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000403687.8",
"protein_id": "ENSP00000384192.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001139488.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403687.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000402538.8",
"protein_id": "ENSP00000385886.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402538.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000407811.5",
"protein_id": "ENSP00000383917.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 689,
"cds_start": 457,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407811.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000850562.1",
"protein_id": "ENSP00000520853.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 726,
"cds_start": 457,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850562.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000850563.1",
"protein_id": "ENSP00000520854.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 725,
"cds_start": 457,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850563.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000967278.1",
"protein_id": "ENSP00000637337.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 700,
"cds_start": 457,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967278.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "NM_001349975.2",
"protein_id": "NP_001336904.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349975.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "NM_001349976.2",
"protein_id": "NP_001336905.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349976.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "NM_001349977.2",
"protein_id": "NP_001336906.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349977.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "NM_170672.3",
"protein_id": "NP_733772.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170672.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000884676.1",
"protein_id": "ENSP00000554735.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884676.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000884677.1",
"protein_id": "ENSP00000554736.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884677.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000884679.1",
"protein_id": "ENSP00000554738.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884679.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000884682.1",
"protein_id": "ENSP00000554741.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884682.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000884683.1",
"protein_id": "ENSP00000554742.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884683.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000884685.1",
"protein_id": "ENSP00000554744.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884685.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000884686.1",
"protein_id": "ENSP00000554745.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884686.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000967275.1",
"protein_id": "ENSP00000637334.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967275.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000967276.1",
"protein_id": "ENSP00000637335.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967276.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000967277.1",
"protein_id": "ENSP00000637336.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967277.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "ENST00000967279.1",
"protein_id": "ENSP00000637338.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967279.1"
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "XM_011532748.4",
"protein_id": "XP_011531050.2",
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"aa_start": 153,
"aa_end": null,
"aa_length": 690,
"cds_start": 457,
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"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532748.4"
},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
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"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "XM_017003761.3",
"protein_id": "XP_016859250.1",
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"cds_length": 2073,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003761.3"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
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"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "XM_047443877.1",
"protein_id": "XP_047299833.1",
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"aa_start": 153,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443877.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "XM_047443878.1",
"protein_id": "XP_047299834.1",
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"aa_start": 153,
"aa_end": null,
"aa_length": 689,
"cds_start": 457,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_047443878.1"
},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser",
"transcript": "XM_047443879.1",
"protein_id": "XP_047299835.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 689,
"cds_start": 457,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443879.1"
}
],
"gene_symbol": "RASGRP3",
"gene_hgnc_id": 14545,
"dbsnp": "rs750271899",
"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": 0.8223418593406677,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.317,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.437,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_170672.3",
"gene_symbol": "RASGRP3",
"hgnc_id": 14545,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Pro153Ser"
}
],
"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
}