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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: 2-75664678-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=75664678&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 75664678,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003203.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ile778Met",
"transcript": "NM_003203.5",
"protein_id": "NP_003194.3",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 781,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321027.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003203.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ile778Met",
"transcript": "ENST00000321027.8",
"protein_id": "ENSP00000318690.3",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 781,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003203.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321027.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "n.1676T>G",
"hgvs_p": null,
"transcript": "ENST00000470197.5",
"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": "ENST00000470197.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2358T>G",
"hgvs_p": "p.Ile786Met",
"transcript": "ENST00000884726.1",
"protein_id": "ENSP00000554785.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 789,
"cds_start": 2358,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884726.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ile778Met",
"transcript": "ENST00000970645.1",
"protein_id": "ENSP00000640704.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 781,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970645.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ile778Met",
"transcript": "ENST00000970646.1",
"protein_id": "ENSP00000640705.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 781,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970646.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2328T>G",
"hgvs_p": "p.Ile776Met",
"transcript": "ENST00000884730.1",
"protein_id": "ENSP00000554789.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 779,
"cds_start": 2328,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884730.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2265T>G",
"hgvs_p": "p.Ile755Met",
"transcript": "ENST00000884729.1",
"protein_id": "ENSP00000554788.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 758,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884729.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2253T>G",
"hgvs_p": "p.Ile751Met",
"transcript": "ENST00000884728.1",
"protein_id": "ENSP00000554787.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 754,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884728.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2244T>G",
"hgvs_p": "p.Ile748Met",
"transcript": "ENST00000884727.1",
"protein_id": "ENSP00000554786.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 751,
"cds_start": 2244,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884727.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2220T>G",
"hgvs_p": "p.Ile740Met",
"transcript": "NM_001410845.1",
"protein_id": "NP_001397774.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 743,
"cds_start": 2220,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410845.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2220T>G",
"hgvs_p": "p.Ile740Met",
"transcript": "ENST00000409857.7",
"protein_id": "ENSP00000386552.3",
"transcript_support_level": 5,
"aa_start": 740,
"aa_end": null,
"aa_length": 743,
"cds_start": 2220,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409857.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2040T>G",
"hgvs_p": "p.Ile680Met",
"transcript": "ENST00000884731.1",
"protein_id": "ENSP00000554790.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 683,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884731.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.1827T>G",
"hgvs_p": "p.Ile609Met",
"transcript": "NM_001201334.2",
"protein_id": "NP_001188263.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 612,
"cds_start": 1827,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201334.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.588T>G",
"hgvs_p": "p.Ile196Met",
"transcript": "ENST00000427862.1",
"protein_id": "ENSP00000409340.1",
"transcript_support_level": 3,
"aa_start": 196,
"aa_end": null,
"aa_length": 199,
"cds_start": 588,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427862.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2358T>G",
"hgvs_p": "p.Ile786Met",
"transcript": "XM_005264520.5",
"protein_id": "XP_005264577.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 789,
"cds_start": 2358,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264520.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2244T>G",
"hgvs_p": "p.Ile748Met",
"transcript": "XM_047445613.1",
"protein_id": "XP_047301569.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 751,
"cds_start": 2244,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445613.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.2109T>G",
"hgvs_p": "p.Ile703Met",
"transcript": "XM_011533074.4",
"protein_id": "XP_011531376.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 706,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533074.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.1827T>G",
"hgvs_p": "p.Ile609Met",
"transcript": "XM_047445615.1",
"protein_id": "XP_047301571.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 612,
"cds_start": 1827,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPL19",
"gene_hgnc_id": 14052,
"hgvs_c": "c.*122A>C",
"hgvs_p": null,
"transcript": "ENST00000930104.1",
"protein_id": "ENSP00000600163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.*1453T>G",
"hgvs_p": null,
"transcript": "ENST00000541687.5",
"protein_id": "ENSP00000437767.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541687.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCFC2",
"gene_hgnc_id": 1317,
"hgvs_c": "c.*100T>G",
"hgvs_p": null,
"transcript": "ENST00000492826.1",
"protein_id": "ENSP00000475108.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 26,
"cds_start": null,
"cds_end": null,
"cds_length": 81,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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},
{
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{
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],
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"feature": "ENST00000492255.1"
},
{
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"strand": false,
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],
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{
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],
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"feature": "ENST00000472230.5"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "GCFC2",
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"transcript": "ENST00000472230.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000472230.5"
}
],
"gene_symbol": "GCFC2",
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"dbsnp": null,
"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": 0.1000652015209198,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0814,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.481,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003203.5",
"gene_symbol": "GCFC2",
"hgnc_id": 1317,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2334T>G",
"hgvs_p": "p.Ile778Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000930104.1",
"gene_symbol": "MRPL19",
"hgnc_id": 14052,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*122A>C",
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}
],
"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
}