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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: 7-74219990-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74219990&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74219990,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014146.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "NM_032464.3",
"protein_id": "NP_115853.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000460943.6",
"protein_id": "ENSP00000420494.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000275635.11",
"protein_id": "ENSP00000275635.7",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000344995.9",
"protein_id": "ENSP00000344881.5",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000398475.5",
"protein_id": "ENSP00000381492.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "n.209C>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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000858504.1",
"protein_id": "ENSP00000528563.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 276,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000962408.1",
"protein_id": "ENSP00000632467.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 276,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "NM_014146.4",
"protein_id": "NP_054865.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "NM_032463.3",
"protein_id": "NP_115852.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000858502.1",
"protein_id": "ENSP00000528561.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000962406.1",
"protein_id": "ENSP00000632465.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000962407.1",
"protein_id": "ENSP00000632466.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000962411.1",
"protein_id": "ENSP00000632470.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000962414.1",
"protein_id": "ENSP00000632473.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000962412.1",
"protein_id": "ENSP00000632471.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 223,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000962413.1",
"protein_id": "ENSP00000632472.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 202,
"cds_start": 209,
"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": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.179C>A",
"hgvs_p": "p.Ala60Glu",
"transcript": "ENST00000470709.1",
"protein_id": "ENSP00000419150.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 99,
"cds_start": 179,
"cds_end": null,
"cds_length": 302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470709.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "ENST00000475494.5",
"protein_id": "ENSP00000417533.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 99,
"cds_start": 209,
"cds_end": null,
"cds_length": 301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475494.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.257C>A",
"hgvs_p": "p.Ala86Glu",
"transcript": "XM_047420801.1",
"protein_id": "XP_047276757.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 259,
"cds_start": 257,
"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"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu",
"transcript": "XM_011516558.2",
"protein_id": "XP_011514860.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 243,
"cds_start": 209,
"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": "XM_011516558.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.169C>A",
"hgvs_p": "p.Arg57Arg",
"transcript": "ENST00000858503.1",
"protein_id": "ENSP00000528562.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 211,
"cds_start": 169,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
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"hgvs_c": "c.169C>A",
"hgvs_p": "p.Arg57Arg",
"transcript": "ENST00000962409.1",
"protein_id": "ENSP00000632468.1",
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"aa_start": 57,
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"aa_length": 211,
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"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "LAT2",
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"hgvs_c": "c.169C>A",
"hgvs_p": "p.Arg57Arg",
"transcript": "ENST00000962410.1",
"protein_id": "ENSP00000632469.1",
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"aa_start": 57,
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"aa_length": 199,
"cds_start": 169,
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"cds_length": 600,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962410.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.*18C>A",
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"transcript": "ENST00000361082.7",
"protein_id": "ENSP00000354374.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361082.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"hgvs_c": "c.*206C>A",
"hgvs_p": null,
"transcript": "ENST00000465116.5",
"protein_id": "ENSP00000420549.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465116.5"
}
],
"gene_symbol": "LAT2",
"gene_hgnc_id": 12749,
"dbsnp": "rs369645558",
"frequency_reference_population": 0.0000037184905,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000205287,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03705412149429321,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0804,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.187,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014146.4",
"gene_symbol": "LAT2",
"hgnc_id": 12749,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}