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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: 1-23694695-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23694695&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23694695,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000975.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.300A>G",
"hgvs_p": "p.Ser100Ser",
"transcript": "NM_000975.5",
"protein_id": "NP_000966.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 178,
"cds_start": 300,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643754.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000975.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.300A>G",
"hgvs_p": "p.Ser100Ser",
"transcript": "ENST00000643754.2",
"protein_id": "ENSP00000496250.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 178,
"cds_start": 300,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000975.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643754.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Ser99Ser",
"transcript": "ENST00000374550.8",
"protein_id": "ENSP00000363676.4",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 177,
"cds_start": 297,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374550.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Ser89Ser",
"transcript": "ENST00000458455.2",
"protein_id": "ENSP00000398888.2",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 167,
"cds_start": 267,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458455.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "n.294A>G",
"hgvs_p": null,
"transcript": "ENST00000482370.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000482370.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.321A>G",
"hgvs_p": "p.Ser107Ser",
"transcript": "ENST00000933799.1",
"protein_id": "ENSP00000603858.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 185,
"cds_start": 321,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933799.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.300A>G",
"hgvs_p": "p.Ser100Ser",
"transcript": "ENST00000970070.1",
"protein_id": "ENSP00000640129.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 178,
"cds_start": 300,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970070.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Ser99Ser",
"transcript": "NM_001199802.1",
"protein_id": "NP_001186731.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 177,
"cds_start": 297,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199802.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.300A>G",
"hgvs_p": "p.Ser100Ser",
"transcript": "ENST00000933792.1",
"protein_id": "ENSP00000603851.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 177,
"cds_start": 300,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933792.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.300A>G",
"hgvs_p": "p.Ser100Ser",
"transcript": "ENST00000970068.1",
"protein_id": "ENSP00000640127.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 177,
"cds_start": 300,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970068.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.297A>G",
"hgvs_p": "p.Ser99Ser",
"transcript": "ENST00000970069.1",
"protein_id": "ENSP00000640128.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 176,
"cds_start": 297,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970069.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.291A>G",
"hgvs_p": "p.Ser97Ser",
"transcript": "ENST00000933788.1",
"protein_id": "ENSP00000603847.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 175,
"cds_start": 291,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933788.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.288A>G",
"hgvs_p": "p.Ser96Ser",
"transcript": "ENST00000933794.1",
"protein_id": "ENSP00000603853.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 174,
"cds_start": 288,
"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": "ENST00000933794.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.285A>G",
"hgvs_p": "p.Ser95Ser",
"transcript": "ENST00000933795.1",
"protein_id": "ENSP00000603854.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 173,
"cds_start": 285,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933795.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.300A>G",
"hgvs_p": "p.Ser100Ser",
"transcript": "ENST00000933796.1",
"protein_id": "ENSP00000603855.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 141,
"cds_start": 300,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933796.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.180A>G",
"hgvs_p": "p.Ser60Ser",
"transcript": "ENST00000933789.1",
"protein_id": "ENSP00000603848.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 138,
"cds_start": 180,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933789.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.150A>G",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000933791.1",
"protein_id": "ENSP00000603850.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 128,
"cds_start": 150,
"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": "ENST00000933791.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.147A>G",
"hgvs_p": "p.Ser49Ser",
"transcript": "ENST00000933797.1",
"protein_id": "ENSP00000603856.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 127,
"cds_start": 147,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933797.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.42A>G",
"hgvs_p": "p.Ser14Ser",
"transcript": "ENST00000933793.1",
"protein_id": "ENSP00000603852.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 92,
"cds_start": 42,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933793.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.262-31A>G",
"hgvs_p": null,
"transcript": "ENST00000933801.1",
"protein_id": "ENSP00000603860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933801.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.264+782A>G",
"hgvs_p": null,
"transcript": "ENST00000895876.1",
"protein_id": "ENSP00000565935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.264+782A>G",
"hgvs_p": null,
"transcript": "ENST00000933800.1",
"protein_id": "ENSP00000603859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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],
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},
{
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],
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{
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"protein_coding": false,
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],
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"exon_count": 6,
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"gene_symbol": "RPL11",
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"hgvs_c": "n.*396A>G",
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"transcript": "ENST00000467075.2",
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"biotype": "nonsense_mediated_decay",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "RPL11",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467075.2"
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],
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"dbsnp": "rs372622822",
"frequency_reference_population": 0.000062572406,
"hom_count_reference_population": 1,
"allele_count_reference_population": 101,
"gnomad_exomes_af": 0.0000595143,
"gnomad_genomes_af": 0.0000919262,
"gnomad_exomes_ac": 87,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.555,
"phylop100way_prediction": "Benign",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000975.5",
"gene_symbol": "RPL11",
"hgnc_id": 10301,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.300A>G",
"hgvs_p": "p.Ser100Ser"
}
],
"clinvar_disease": "Diamond-Blackfan anemia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Diamond-Blackfan anemia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}