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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: 1-240814726-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=240814726&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 240814726,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001364886.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "NM_001364886.1",
"protein_id": "NP_001351815.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 495,
"cds_start": 835,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440928.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364886.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "ENST00000440928.6",
"protein_id": "ENSP00000404399.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 495,
"cds_start": 835,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364886.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440928.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "ENST00000366565.5",
"protein_id": "ENSP00000355523.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 487,
"cds_start": 835,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366565.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "ENST00000366564.5",
"protein_id": "ENSP00000355522.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 469,
"cds_start": 835,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366564.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Ile",
"transcript": "ENST00000348120.6",
"protein_id": "ENSP00000341242.2",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 424,
"cds_start": 676,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348120.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Val303Ile",
"transcript": "ENST00000688633.1",
"protein_id": "ENSP00000509822.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 493,
"cds_start": 907,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688633.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "NM_002924.6",
"protein_id": "NP_002915.3",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 487,
"cds_start": 835,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002924.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "ENST00000688863.1",
"protein_id": "ENSP00000509381.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 487,
"cds_start": 835,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688863.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "NM_001282775.2",
"protein_id": "NP_001269704.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 477,
"cds_start": 835,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282775.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "ENST00000366563.5",
"protein_id": "ENSP00000355521.1",
"transcript_support_level": 5,
"aa_start": 279,
"aa_end": null,
"aa_length": 477,
"cds_start": 835,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366563.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "ENST00000691979.1",
"protein_id": "ENSP00000510676.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 477,
"cds_start": 835,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691979.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "NM_001282778.2",
"protein_id": "NP_001269707.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 469,
"cds_start": 835,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282778.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Val278Ile",
"transcript": "ENST00000686908.1",
"protein_id": "ENSP00000510420.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 468,
"cds_start": 832,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686908.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Val262Ile",
"transcript": "NM_001374806.1",
"protein_id": "NP_001361735.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 460,
"cds_start": 784,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374806.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"transcript": "ENST00000690539.1",
"protein_id": "ENSP00000510322.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 459,
"cds_start": 835,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690539.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Val262Ile",
"transcript": "NM_001374807.1",
"protein_id": "NP_001361736.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 452,
"cds_start": 784,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374807.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Val262Ile",
"transcript": "ENST00000690019.1",
"protein_id": "ENSP00000510735.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 452,
"cds_start": 784,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690019.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "NM_001350113.2",
"protein_id": "NP_001337042.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 451,
"cds_start": 757,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350113.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "NM_001350114.2",
"protein_id": "NP_001337043.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 451,
"cds_start": 757,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350114.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "NM_001374808.1",
"protein_id": "NP_001361737.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 451,
"cds_start": 757,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374808.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "ENST00000685936.1",
"protein_id": "ENSP00000510372.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 451,
"cds_start": 757,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685936.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS7",
"gene_hgnc_id": 10003,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Val253Ile",
"transcript": "ENST00000688703.1",
"protein_id": "ENSP00000510116.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 451,
"cds_start": 757,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "pseudogene",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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},
{
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"protein_coding": false,
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"consequences": [
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],
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{
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"feature": "ENST00000693448.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "RGS7",
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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"feature": "ENST00000687018.1"
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{
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"3_prime_UTR_variant"
],
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{
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],
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"gene_symbol": "RGS7",
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"feature": "ENST00000688545.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "RGS7",
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"hgvs_c": "n.*389G>A",
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"transcript": "ENST00000690356.1",
"protein_id": "ENSP00000509411.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690356.1"
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],
"gene_symbol": "RGS7",
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"dbsnp": "rs138506883",
"frequency_reference_population": 0.000015032979,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000152332,
"gnomad_genomes_af": 0.000013134,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17942506074905396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.168,
"revel_prediction": "Benign",
"alphamissense_score": 0.2893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001364886.1",
"gene_symbol": "RGS7",
"hgnc_id": 10003,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile"
}
],
"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
}