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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: 7-74224702-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74224702&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74224702,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014146.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "NM_032464.3",
"protein_id": "NP_115853.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000460943.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032464.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000460943.6",
"protein_id": "ENSP00000420494.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032464.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460943.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000275635.11",
"protein_id": "ENSP00000275635.7",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275635.11"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000344995.9",
"protein_id": "ENSP00000344881.5",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344995.9"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000398475.5",
"protein_id": "ENSP00000381492.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398475.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "n.*300C>A",
"hgvs_p": null,
"transcript": "ENST00000488266.5",
"protein_id": "ENSP00000433807.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000488266.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "n.*300C>A",
"hgvs_p": null,
"transcript": "ENST00000488266.5",
"protein_id": "ENSP00000433807.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000488266.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.791C>A",
"hgvs_p": "p.Pro264Gln",
"transcript": "ENST00000858504.1",
"protein_id": "ENSP00000528563.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 276,
"cds_start": 791,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858504.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.791C>A",
"hgvs_p": "p.Pro264Gln",
"transcript": "ENST00000962408.1",
"protein_id": "ENSP00000632467.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 276,
"cds_start": 791,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962408.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "NM_014146.4",
"protein_id": "NP_054865.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014146.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "NM_032463.3",
"protein_id": "NP_115852.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032463.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000858502.1",
"protein_id": "ENSP00000528561.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858502.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000962406.1",
"protein_id": "ENSP00000632465.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962406.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000962407.1",
"protein_id": "ENSP00000632466.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962407.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000962411.1",
"protein_id": "ENSP00000632470.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962411.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.692C>A",
"hgvs_p": "p.Pro231Gln",
"transcript": "ENST00000962414.1",
"protein_id": "ENSP00000632473.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 243,
"cds_start": 692,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962414.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Pro211Gln",
"transcript": "ENST00000962412.1",
"protein_id": "ENSP00000632471.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 223,
"cds_start": 632,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962412.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.596C>A",
"hgvs_p": "p.Pro199Gln",
"transcript": "ENST00000858503.1",
"protein_id": "ENSP00000528562.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 211,
"cds_start": 596,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858503.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.596C>A",
"hgvs_p": "p.Pro199Gln",
"transcript": "ENST00000962409.1",
"protein_id": "ENSP00000632468.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 211,
"cds_start": 596,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962409.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.569C>A",
"hgvs_p": "p.Pro190Gln",
"transcript": "ENST00000962413.1",
"protein_id": "ENSP00000632472.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 202,
"cds_start": 569,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962413.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.560C>A",
"hgvs_p": "p.Pro187Gln",
"transcript": "ENST00000962410.1",
"protein_id": "ENSP00000632469.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 199,
"cds_start": 560,
"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": "ENST00000962410.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.740C>A",
"hgvs_p": "p.Pro247Gln",
"transcript": "XM_047420801.1",
"protein_id": "XP_047276757.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 259,
"cds_start": 740,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420801.1"
},
{
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{
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"protein_id": "ENSP00000528368.1",
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{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000490586.1"
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],
"gene_symbol": "LAT2",
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"dbsnp": "rs782616155",
"frequency_reference_population": 6.873712e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87371e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6535959839820862,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.835,
"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": 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_014146.4",
"gene_symbol": "LAT2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000858309.1",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
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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
}