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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: 4-39454619-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=39454619&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 39454619,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000661.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "NM_000661.5",
"protein_id": "NP_000652.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295955.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000661.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000295955.14",
"protein_id": "ENSP00000346022.7",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000661.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295955.14"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000449470.6",
"protein_id": "ENSP00000400467.2",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449470.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.587A>G",
"hgvs_p": "p.Lys196Arg",
"transcript": "ENST00000503277.6",
"protein_id": "ENSP00000494836.1",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 220,
"cds_start": 587,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503277.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.587A>G",
"hgvs_p": "p.Lys196Arg",
"transcript": "ENST00000894380.1",
"protein_id": "ENSP00000564439.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 220,
"cds_start": 587,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894380.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.587A>G",
"hgvs_p": "p.Lys196Arg",
"transcript": "ENST00000928678.1",
"protein_id": "ENSP00000598737.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 220,
"cds_start": 587,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928678.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "NM_001024921.4",
"protein_id": "NP_001020092.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024921.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000645496.2",
"protein_id": "ENSP00000494697.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645496.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000894374.1",
"protein_id": "ENSP00000564433.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894374.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000894375.1",
"protein_id": "ENSP00000564434.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894375.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000894377.1",
"protein_id": "ENSP00000564436.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894377.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000894379.1",
"protein_id": "ENSP00000564438.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894379.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000928675.1",
"protein_id": "ENSP00000598734.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928675.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000928677.1",
"protein_id": "ENSP00000598736.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928677.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000928679.1",
"protein_id": "ENSP00000598738.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928679.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000928680.1",
"protein_id": "ENSP00000598739.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928680.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg",
"transcript": "ENST00000928682.1",
"protein_id": "ENSP00000598741.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 192,
"cds_start": 503,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928682.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Lys165Arg",
"transcript": "ENST00000928672.1",
"protein_id": "ENSP00000598731.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 189,
"cds_start": 494,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928672.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.Lys163Arg",
"transcript": "ENST00000894378.1",
"protein_id": "ENSP00000564437.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 187,
"cds_start": 488,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894378.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.488A>G",
"hgvs_p": "p.Lys163Arg",
"transcript": "ENST00000503040.5",
"protein_id": "ENSP00000421872.1",
"transcript_support_level": 4,
"aa_start": 163,
"aa_end": null,
"aa_length": 180,
"cds_start": 488,
"cds_end": null,
"cds_length": 545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503040.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000894376.1",
"protein_id": "ENSP00000564435.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 172,
"cds_start": 443,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894376.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000928681.1",
"protein_id": "ENSP00000598740.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 172,
"cds_start": 443,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928681.1"
},
{
"aa_ref": "K",
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{
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{
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"feature": "ENST00000961349.1"
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{
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],
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{
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},
{
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"missense_variant"
],
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"hgvs_p": "p.Lys66Arg",
"transcript": "ENST00000506581.6",
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{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RPL9",
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"biotype": "retained_intron",
"feature": "ENST00000511643.6"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "RPL9",
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"hgvs_c": "n.832A>G",
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"transcript": "ENST00000644328.1",
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"cds_start": null,
"cds_end": null,
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"biotype": "retained_intron",
"feature": "ENST00000644328.1"
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],
"gene_symbol": "RPL9",
"gene_hgnc_id": 10369,
"dbsnp": "rs960084298",
"frequency_reference_population": 0.0000018596071,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136893,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4365141987800598,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.1056,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.988,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000661.5",
"gene_symbol": "RPL9",
"hgnc_id": 10369,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Lys168Arg"
}
],
"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
}