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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: 12-56235666-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56235666&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56235666,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173596.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "NM_173596.3",
"protein_id": "NP_775867.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": "ENST00000454355.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173596.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000454355.7",
"protein_id": "ENSP00000405360.2",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": "NM_173596.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454355.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000266980.8",
"protein_id": "ENSP00000266980.4",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266980.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Cys307Arg",
"transcript": "ENST00000881986.1",
"protein_id": "ENSP00000552045.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 550,
"cds_start": 919,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881986.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "NM_001135195.1",
"protein_id": "NP_001128667.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135195.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881967.1",
"protein_id": "ENSP00000552026.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881967.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881968.1",
"protein_id": "ENSP00000552027.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881968.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881969.1",
"protein_id": "ENSP00000552028.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881969.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881970.1",
"protein_id": "ENSP00000552029.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881970.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881971.1",
"protein_id": "ENSP00000552030.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881971.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881972.1",
"protein_id": "ENSP00000552031.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881972.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881974.1",
"protein_id": "ENSP00000552033.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881974.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881977.1",
"protein_id": "ENSP00000552036.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881977.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881978.1",
"protein_id": "ENSP00000552037.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881978.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881979.1",
"protein_id": "ENSP00000552038.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881979.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881980.1",
"protein_id": "ENSP00000552039.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881980.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881981.1",
"protein_id": "ENSP00000552040.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881981.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881982.1",
"protein_id": "ENSP00000552041.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881982.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881992.1",
"protein_id": "ENSP00000552051.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881992.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000881995.1",
"protein_id": "ENSP00000552054.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881995.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000955283.1",
"protein_id": "ENSP00000625342.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955283.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr",
"transcript": "ENST00000955284.1",
"protein_id": "ENSP00000625343.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 540,
"cds_start": 911,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1143,
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"feature": "ENST00000881988.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"transcript": "ENST00000955287.1",
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"biotype": "protein_coding",
"feature": "ENST00000955287.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "n.780T>C",
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"transcript": "ENST00000481103.5",
"protein_id": null,
"transcript_support_level": 2,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 926,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481103.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"hgvs_c": "n.1264T>C",
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"transcript": "XR_007063069.1",
"protein_id": null,
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"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": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063069.1"
}
],
"gene_symbol": "SLC39A5",
"gene_hgnc_id": 20502,
"dbsnp": "rs587777625",
"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": 0.5799535512924194,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.687,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.0665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.037,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173596.3",
"gene_symbol": "SLC39A5",
"hgnc_id": 20502,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Met304Thr"
}
],
"clinvar_disease": " autosomal dominant,Myopia 24",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myopia 24, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}