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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: 1-236825371-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236825371&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236825371,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000366577.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "NM_000254.3",
"protein_id": "NP_000245.2",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1265,
"cds_start": 899,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "ENST00000366577.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "ENST00000366577.10",
"protein_id": "ENSP00000355536.5",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 1265,
"cds_start": 899,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "NM_000254.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "ENST00000535889.6",
"protein_id": "ENSP00000441845.1",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 1214,
"cds_start": 899,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.-210C>T",
"hgvs_p": null,
"transcript": "NM_001291940.2",
"protein_id": "NP_001278869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": -4,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "NM_001291939.1",
"protein_id": "NP_001278868.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1214,
"cds_start": 899,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 10405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "ENST00000681102.1",
"protein_id": "ENSP00000505600.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1205,
"cds_start": 899,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "NM_001410942.1",
"protein_id": "NP_001397871.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1202,
"cds_start": 899,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "ENST00000679842.1",
"protein_id": "ENSP00000506109.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1202,
"cds_start": 899,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.551C>T",
"hgvs_p": "p.Thr184Met",
"transcript": "ENST00000674797.2",
"protein_id": "ENSP00000502299.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 1149,
"cds_start": 551,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 10332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "ENST00000681177.1",
"protein_id": "ENSP00000506327.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1119,
"cds_start": 899,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "XM_011544194.4",
"protein_id": "XP_011542496.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1321,
"cds_start": 1067,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "XM_017001329.3",
"protein_id": "XP_016856818.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1270,
"cds_start": 1067,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 10190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Met",
"transcript": "XM_005273141.6",
"protein_id": "XP_005273198.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1264,
"cds_start": 896,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 10555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "XM_017001330.3",
"protein_id": "XP_016856819.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1258,
"cds_start": 1067,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 10154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Met",
"transcript": "XM_047421182.1",
"protein_id": "XP_047277138.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1213,
"cds_start": 896,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 10402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "XM_047421183.1",
"protein_id": "XP_047277139.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1207,
"cds_start": 1067,
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"cdna_start": 1107,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Thr299Met",
"transcript": "XM_047421185.1",
"protein_id": "XP_047277141.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 1201,
"cds_start": 896,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 10366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met",
"transcript": "XM_047421186.1",
"protein_id": "XP_047277142.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1151,
"cds_start": 899,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 10216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.*124C>T",
"hgvs_p": null,
"transcript": "ENST00000463959.1",
"protein_id": "ENSP00000505498.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.899C>T",
"hgvs_p": null,
"transcript": "ENST00000651455.1",
"protein_id": "ENSP00000498963.1",
"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": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.1213C>T",
"hgvs_p": null,
"transcript": "ENST00000679569.1",
"protein_id": null,
"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": 9937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.1343C>T",
"hgvs_p": null,
"transcript": "ENST00000680454.1",
"protein_id": null,
"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": 10067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.1531C>T",
"hgvs_p": null,
"transcript": "ENST00000681937.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
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"hgvs_c": "c.-210C>T",
"hgvs_p": null,
"transcript": "NM_001291940.2",
"protein_id": "NP_001278869.1",
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"aa_end": null,
"aa_length": 858,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTR",
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"hgvs_c": "n.*124C>T",
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"transcript": "ENST00000463959.1",
"protein_id": "ENSP00000505498.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 8,
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"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "n.765-1458C>T",
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"transcript": "ENST00000650888.1",
"protein_id": "ENSP00000498393.1",
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"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": 5698,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"hgvs_c": "c.-9-1458C>T",
"hgvs_p": null,
"transcript": "XM_047421187.1",
"protein_id": "XP_047277143.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTR",
"gene_hgnc_id": 7468,
"dbsnp": "rs201871910",
"frequency_reference_population": 0.00007684604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 124,
"gnomad_exomes_af": 0.0000827876,
"gnomad_genomes_af": 0.0000197311,
"gnomad_exomes_ac": 121,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5273565649986267,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.397,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0931,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.058,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000366577.10",
"gene_symbol": "MTR",
"hgnc_id": 7468,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Thr300Met"
}
],
"clinvar_disease": "Inborn genetic diseases,Methylcobalamin deficiency type cblG,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Methylcobalamin deficiency type cblG|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}