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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: 16-18784818-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=18784818&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 18784818,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001019.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "NM_001019.5",
"protein_id": "NP_001010.2",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322989.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001019.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000322989.8",
"protein_id": "ENSP00000318646.4",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001019.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322989.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000563390.5",
"protein_id": "ENSP00000457000.1",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563390.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "n.316G>C",
"hgvs_p": null,
"transcript": "ENST00000576008.5",
"protein_id": "ENSP00000459373.1",
"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": "ENST00000576008.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.316G>C",
"hgvs_p": "p.Gly106Arg",
"transcript": "ENST00000576436.5",
"protein_id": "ENSP00000459554.1",
"transcript_support_level": 4,
"aa_start": 106,
"aa_end": null,
"aa_length": 111,
"cds_start": 316,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576436.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.351G>C",
"hgvs_p": "p.Gly117Gly",
"transcript": "ENST00000941219.1",
"protein_id": "ENSP00000611278.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 174,
"cds_start": 351,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941219.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "NM_001030009.2",
"protein_id": "NP_001025180.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001030009.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000565420.5",
"protein_id": "ENSP00000458115.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565420.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000884970.1",
"protein_id": "ENSP00000555029.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884970.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000884971.1",
"protein_id": "ENSP00000555030.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884971.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000884972.1",
"protein_id": "ENSP00000555031.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884972.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924188.1",
"protein_id": "ENSP00000594247.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924188.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924189.1",
"protein_id": "ENSP00000594248.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924189.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924190.1",
"protein_id": "ENSP00000594249.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924190.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924191.1",
"protein_id": "ENSP00000594250.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924191.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924192.1",
"protein_id": "ENSP00000594251.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924192.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924193.1",
"protein_id": "ENSP00000594252.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924193.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924195.1",
"protein_id": "ENSP00000594254.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924195.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924197.1",
"protein_id": "ENSP00000594256.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924197.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924198.1",
"protein_id": "ENSP00000594257.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924198.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924199.1",
"protein_id": "ENSP00000594258.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 130,
"cds_start": 219,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924199.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS15A",
"gene_hgnc_id": 10389,
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly",
"transcript": "ENST00000924196.1",
"protein_id": "ENSP00000594255.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 128,
"cds_start": 219,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924196.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
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{
"aa_ref": "G",
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{
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"feature": "ENST00000924194.1"
},
{
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],
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{
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{
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],
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"transcript": "ENST00000572008.5",
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{
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"non_coding_transcript_exon_variant"
],
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{
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],
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{
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{
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"3_prime_UTR_variant"
],
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],
"gene_symbol": "RPS15A",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.05144587159156799,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": 0.1763,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.69,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001019.5",
"gene_symbol": "RPS15A",
"hgnc_id": 10389,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.219G>C",
"hgvs_p": "p.Gly73Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}