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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: 4-102344551-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102344551&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 102344551,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000356736.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "NM_001135146.2",
"protein_id": "NP_001128618.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 460,
"cds_start": 112,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": "ENST00000356736.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "ENST00000356736.5",
"protein_id": "ENSP00000349174.4",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 460,
"cds_start": 112,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": "NM_001135146.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "ENST00000394833.6",
"protein_id": "ENSP00000378310.2",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 460,
"cds_start": 112,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "NM_022154.5",
"protein_id": "NP_071437.3",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 460,
"cds_start": 112,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "ENST00000682227.1",
"protein_id": "ENSP00000508363.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 460,
"cds_start": 112,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 3068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "ENST00000682932.1",
"protein_id": "ENSP00000507414.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 460,
"cds_start": 112,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "ENST00000683412.1",
"protein_id": "ENSP00000507538.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 460,
"cds_start": 112,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "ENST00000683221.1",
"protein_id": "ENSP00000508093.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 450,
"cds_start": 112,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "NM_001135147.1",
"protein_id": "NP_001128619.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 444,
"cds_start": 112,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "XM_024454184.2",
"protein_id": "XP_024309952.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 475,
"cds_start": 112,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "XM_047416070.1",
"protein_id": "XP_047272026.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 460,
"cds_start": 112,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg",
"transcript": "XM_024454183.2",
"protein_id": "XP_024309951.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 299,
"cds_start": 112,
"cds_end": null,
"cds_length": 900,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000424970.7",
"protein_id": "ENSP00000394548.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000682243.1",
"protein_id": "ENSP00000507952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000682549.1",
"protein_id": "ENSP00000507483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000683173.1",
"protein_id": "ENSP00000508032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000683462.1",
"protein_id": "ENSP00000507170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000683634.1",
"protein_id": "ENSP00000507087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000683706.1",
"protein_id": "ENSP00000506745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2548,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000683916.1",
"protein_id": "ENSP00000508106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000684289.1",
"protein_id": "ENSP00000506748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "n.112G>C",
"hgvs_p": null,
"transcript": "ENST00000684386.1",
"protein_id": "ENSP00000507611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"hgvs_c": "c.-475G>C",
"hgvs_p": null,
"transcript": "XM_017008541.2",
"protein_id": "XP_016864030.1",
"transcript_support_level": null,
"aa_start": null,
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{
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},
{
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{
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{
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"gene_symbol": "SLC39A8",
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}
],
"gene_symbol": "SLC39A8",
"gene_hgnc_id": 20862,
"dbsnp": "rs778210210",
"frequency_reference_population": 0.000034075758,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000356321,
"gnomad_genomes_af": 0.00001972,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7442831993103027,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.66,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8675,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.015,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000356736.5",
"gene_symbol": "SLC39A8",
"hgnc_id": 20862,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.112G>C",
"hgvs_p": "p.Gly38Arg"
}
],
"clinvar_disease": "SLC39A8-CDG,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "SLC39A8-CDG|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}