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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: 1-92836191-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92836191&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92836191,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000969.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "NM_000969.5",
"protein_id": "NP_000960.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 297,
"cds_start": 326,
"cds_end": null,
"cds_length": 894,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": "ENST00000370321.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000969.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "ENST00000370321.8",
"protein_id": "ENSP00000359345.2",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 297,
"cds_start": 326,
"cds_end": null,
"cds_length": 894,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": "NM_000969.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370321.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DIPK1A",
"gene_hgnc_id": 32213,
"hgvs_c": "c.475-3157A>G",
"hgvs_p": null,
"transcript": "ENST00000615519.4",
"protein_id": "ENSP00000483279.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615519.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "ENST00000880515.1",
"protein_id": "ENSP00000550574.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 295,
"cds_start": 326,
"cds_end": null,
"cds_length": 888,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880515.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "ENST00000880516.1",
"protein_id": "ENSP00000550575.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 294,
"cds_start": 326,
"cds_end": null,
"cds_length": 885,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880516.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro",
"transcript": "ENST00000880518.1",
"protein_id": "ENSP00000550577.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 286,
"cds_start": 326,
"cds_end": null,
"cds_length": 861,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880518.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.287T>C",
"hgvs_p": "p.Leu96Pro",
"transcript": "ENST00000880514.1",
"protein_id": "ENSP00000550573.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 284,
"cds_start": 287,
"cds_end": null,
"cds_length": 855,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880514.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.191T>C",
"hgvs_p": "p.Leu64Pro",
"transcript": "ENST00000933849.1",
"protein_id": "ENSP00000603908.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 252,
"cds_start": 191,
"cds_end": null,
"cds_length": 759,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933849.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.176T>C",
"hgvs_p": "p.Leu59Pro",
"transcript": "ENST00000645300.1",
"protein_id": "ENSP00000495589.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 237,
"cds_start": 176,
"cds_end": null,
"cds_length": 714,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645300.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Leu47Pro",
"transcript": "ENST00000933852.1",
"protein_id": "ENSP00000603911.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 235,
"cds_start": 140,
"cds_end": null,
"cds_length": 708,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933852.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.62T>C",
"hgvs_p": "p.Leu21Pro",
"transcript": "ENST00000933853.1",
"protein_id": "ENSP00000603912.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 209,
"cds_start": 62,
"cds_end": null,
"cds_length": 630,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933853.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.5T>C",
"hgvs_p": "p.Leu2Pro",
"transcript": "ENST00000880517.1",
"protein_id": "ENSP00000550576.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 190,
"cds_start": 5,
"cds_end": null,
"cds_length": 573,
"cdna_start": 80,
"cdna_end": null,
"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880517.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.176T>C",
"hgvs_p": "p.Leu59Pro",
"transcript": "ENST00000315741.5",
"protein_id": "ENSP00000359338.2",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 129,
"cds_start": 176,
"cds_end": null,
"cds_length": 391,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315741.5"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.325-26T>C",
"hgvs_p": null,
"transcript": "ENST00000933851.1",
"protein_id": "ENSP00000603910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933851.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.325-167T>C",
"hgvs_p": null,
"transcript": "ENST00000933854.1",
"protein_id": "ENSP00000603913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933854.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.324+1278T>C",
"hgvs_p": null,
"transcript": "ENST00000645119.1",
"protein_id": "ENSP00000493811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645119.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DIPK1A",
"gene_hgnc_id": 32213,
"hgvs_c": "c.475-3157A>G",
"hgvs_p": null,
"transcript": "NM_001252273.2",
"protein_id": "NP_001239202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252273.2"
},
{
"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": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.189+2531T>C",
"hgvs_p": null,
"transcript": "ENST00000880519.1",
"protein_id": "ENSP00000550578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880519.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.3+4074T>C",
"hgvs_p": null,
"transcript": "ENST00000933850.1",
"protein_id": "ENSP00000603909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": null,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.1036T>C",
"hgvs_p": null,
"transcript": "ENST00000461952.1",
"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": 1116,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461952.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.*288T>C",
"hgvs_p": null,
"transcript": "ENST00000470843.5",
"protein_id": "ENSP00000473675.1",
"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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470843.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.60T>C",
"hgvs_p": null,
"transcript": "ENST00000645908.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"biotype": "retained_intron",
"feature": "ENST00000645908.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.*288T>C",
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"transcript": "ENST00000470843.5",
"protein_id": "ENSP00000473675.1",
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470843.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.421-36T>C",
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"transcript": "NR_146333.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146333.1"
}
],
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"dbsnp": "rs878854146",
"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": 0.9152980446815491,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3440000116825104,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.828,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9995,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.891,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.14,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.373575264618857,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000969.5",
"gene_symbol": "RPL5",
"hgnc_id": 10360,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.326T>C",
"hgvs_p": "p.Leu109Pro"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001252273.2",
"gene_symbol": "DIPK1A",
"hgnc_id": 32213,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.475-3157A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Diamond-Blackfan anemia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Diamond-Blackfan anemia",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}