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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: 16-934246-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=934246&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 934246,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_022773.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.512T>A",
"hgvs_p": "p.Phe171Tyr",
"transcript": "NM_022773.4",
"protein_id": "NP_073610.2",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 567,
"cds_start": 512,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": "ENST00000262301.16",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022773.4"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.512T>A",
"hgvs_p": "p.Phe171Tyr",
"transcript": "ENST00000262301.16",
"protein_id": "ENSP00000262301.12",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 567,
"cds_start": 512,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": "NM_022773.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262301.16"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.395T>A",
"hgvs_p": "p.Phe132Tyr",
"transcript": "ENST00000562380.5",
"protein_id": "ENSP00000455715.1",
"transcript_support_level": 4,
"aa_start": 132,
"aa_end": null,
"aa_length": 134,
"cds_start": 395,
"cds_end": null,
"cds_length": 405,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562380.5"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.512T>A",
"hgvs_p": "p.Phe171Tyr",
"transcript": "ENST00000963976.1",
"protein_id": "ENSP00000634035.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 593,
"cds_start": 512,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963976.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.512T>A",
"hgvs_p": "p.Phe171Tyr",
"transcript": "NM_001352020.1",
"protein_id": "NP_001338949.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 546,
"cds_start": 512,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352020.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.185T>A",
"hgvs_p": "p.Phe62Tyr",
"transcript": "NM_001352019.2",
"protein_id": "NP_001338948.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 458,
"cds_start": 185,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352019.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-43T>A",
"hgvs_p": null,
"transcript": "NM_001352018.2",
"protein_id": "NP_001338947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352018.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-292T>A",
"hgvs_p": null,
"transcript": "NM_001352017.2",
"protein_id": "NP_001338946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352017.2"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.185T>A",
"hgvs_p": "p.Phe62Tyr",
"transcript": "ENST00000570014.5",
"protein_id": "ENSP00000454672.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 197,
"cds_start": 185,
"cds_end": null,
"cds_length": 595,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570014.5"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Phe4Tyr",
"transcript": "ENST00000566627.5",
"protein_id": "ENSP00000455162.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 149,
"cds_start": 11,
"cds_end": null,
"cds_length": 451,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566627.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-43T>A",
"hgvs_p": null,
"transcript": "NM_001352018.2",
"protein_id": "NP_001338947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352018.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-292T>A",
"hgvs_p": null,
"transcript": "NM_001352017.2",
"protein_id": "NP_001338946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352017.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-194T>A",
"hgvs_p": null,
"transcript": "NM_001352021.2",
"protein_id": "NP_001338950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352021.2"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-138+20107T>A",
"hgvs_p": null,
"transcript": "ENST00000568897.5",
"protein_id": "ENSP00000458135.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568897.5"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "c.-49+36542T>A",
"hgvs_p": null,
"transcript": "ENST00000543238.5",
"protein_id": "ENSP00000437418.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543238.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.185T>A",
"hgvs_p": null,
"transcript": "ENST00000545827.6",
"protein_id": "ENSP00000443820.2",
"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": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545827.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.512T>A",
"hgvs_p": null,
"transcript": "ENST00000562226.5",
"protein_id": "ENSP00000455833.1",
"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": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562226.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.440T>A",
"hgvs_p": null,
"transcript": "ENST00000567595.1",
"protein_id": "ENSP00000457725.1",
"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": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567595.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1-AS1",
"gene_hgnc_id": 50469,
"hgvs_c": "n.1044A>T",
"hgvs_p": null,
"transcript": "ENST00000567820.1",
"protein_id": null,
"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": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000567820.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1",
"gene_hgnc_id": 14154,
"hgvs_c": "n.494T>A",
"hgvs_p": null,
"transcript": "ENST00000568964.5",
"protein_id": "ENSP00000456631.1",
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000568964.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1-AS1",
"gene_hgnc_id": 50469,
"hgvs_c": "n.1159A>T",
"hgvs_p": null,
"transcript": "ENST00000569574.1",
"protein_id": null,
"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": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000569574.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMF1-AS1",
"gene_hgnc_id": 50469,
"hgvs_c": "n.1199A>T",
"hgvs_p": null,
"transcript": "NR_110945.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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{
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{
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"canonical": false,
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"strand": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "LMF1",
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],
"gene_symbol": "LMF1",
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"dbsnp": "rs376658034",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6528270840644836,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.237,
"revel_prediction": "Benign",
"alphamissense_score": 0.6238,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.253,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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_022773.4",
"gene_symbol": "LMF1",
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"effects": [
"missense_variant",
"splice_region_variant"
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"inheritance_mode": "AR",
"hgvs_c": "c.512T>A",
"hgvs_p": "p.Phe171Tyr"
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000567820.1",
"gene_symbol": "LMF1-AS1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1044A>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}