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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: 1-23691827-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23691827&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23691827,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000975.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "NM_000975.5",
"protein_id": "NP_000966.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 178,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000643754.2",
"protein_id": "ENSP00000496250.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 178,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000374550.8",
"protein_id": "ENSP00000363676.4",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 177,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933799.1",
"protein_id": "ENSP00000603858.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 185,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000970070.1",
"protein_id": "ENSP00000640129.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 178,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "NM_001199802.1",
"protein_id": "NP_001186731.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 177,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933792.1",
"protein_id": "ENSP00000603851.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 177,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000970068.1",
"protein_id": "ENSP00000640127.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 177,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000970069.1",
"protein_id": "ENSP00000640128.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 176,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933788.1",
"protein_id": "ENSP00000603847.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 175,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933794.1",
"protein_id": "ENSP00000603853.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 174,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933795.1",
"protein_id": "ENSP00000603854.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 173,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933801.1",
"protein_id": "ENSP00000603860.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 155,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933796.1",
"protein_id": "ENSP00000603855.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 141,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933789.1",
"protein_id": "ENSP00000603848.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 138,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000895876.1",
"protein_id": "ENSP00000565935.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 134,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933800.1",
"protein_id": "ENSP00000603859.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 134,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933790.1",
"protein_id": "ENSP00000603849.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 133,
"cds_start": 4,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933790.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933791.1",
"protein_id": "ENSP00000603850.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 128,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933797.1",
"protein_id": "ENSP00000603856.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 127,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933793.1",
"protein_id": "ENSP00000603852.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 92,
"cds_start": 4,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser",
"transcript": "ENST00000933798.1",
"protein_id": "ENSP00000603857.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 48,
"cds_start": 4,
"cds_end": null,
"cds_length": 147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "n.22G>T",
"hgvs_p": null,
"transcript": "ENST00000443624.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000443624.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"hgvs_c": "n.4G>T",
"hgvs_p": null,
"transcript": "ENST00000467075.2",
"protein_id": "ENSP00000493634.1",
"transcript_support_level": 3,
"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": "ENST00000467075.2"
}
],
"gene_symbol": "RPL11",
"gene_hgnc_id": 10301,
"dbsnp": "rs1553121574",
"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": 0.42977389693260193,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7419999837875366,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.346,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0873,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.613,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.976288539383275,
"dbscsnv_ada_prediction": "Pathogenic",
"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_000975.5",
"gene_symbol": "RPL11",
"hgnc_id": 10301,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Ala2Ser"
}
],
"clinvar_disease": "Diamond-Blackfan anemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Diamond-Blackfan anemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}