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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: 1-3497349-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3497349&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3497349,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000356575.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3365G>A",
"hgvs_p": "p.Gly1122Asp",
"transcript": "NM_001409.4",
"protein_id": "NP_001400.3",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3365,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 3605,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": "ENST00000356575.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3365G>A",
"hgvs_p": "p.Gly1122Asp",
"transcript": "ENST00000356575.9",
"protein_id": "ENSP00000348982.4",
"transcript_support_level": 1,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3365,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 3605,
"cdna_end": null,
"cdna_length": 7443,
"mane_select": "NM_001409.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.2792G>A",
"hgvs_p": "p.Gly931Asp",
"transcript": "ENST00000294599.8",
"protein_id": "ENSP00000294599.4",
"transcript_support_level": 1,
"aa_start": 931,
"aa_end": null,
"aa_length": 1229,
"cds_start": 2792,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3050G>A",
"hgvs_p": "p.Gly1017Asp",
"transcript": "NM_001410718.1",
"protein_id": "NP_001397647.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3050,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 3216,
"cdna_end": null,
"cdna_length": 7054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3050G>A",
"hgvs_p": "p.Gly1017Asp",
"transcript": "ENST00000697102.1",
"protein_id": "ENSP00000513108.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1436,
"cds_start": 3050,
"cds_end": null,
"cds_length": 4311,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 7056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3551G>A",
"hgvs_p": "p.Gly1184Asp",
"transcript": "XM_011540886.3",
"protein_id": "XP_011539188.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3551,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 3926,
"cdna_end": null,
"cdna_length": 7635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3419G>A",
"hgvs_p": "p.Gly1140Asp",
"transcript": "XM_017000533.3",
"protein_id": "XP_016856022.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3419,
"cds_end": null,
"cds_length": 4680,
"cdna_start": 3794,
"cdna_end": null,
"cdna_length": 7632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Gly1081Asp",
"transcript": "XM_047448204.1",
"protein_id": "XP_047304160.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1500,
"cds_start": 3242,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 7320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3236G>A",
"hgvs_p": "p.Gly1079Asp",
"transcript": "XM_047448205.1",
"protein_id": "XP_047304161.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1498,
"cds_start": 3236,
"cds_end": null,
"cds_length": 4497,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3365G>A",
"hgvs_p": "p.Gly1122Asp",
"transcript": "XM_047448215.1",
"protein_id": "XP_047304171.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1497,
"cds_start": 3365,
"cds_end": null,
"cds_length": 4494,
"cdna_start": 3605,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3113G>A",
"hgvs_p": "p.Gly1038Asp",
"transcript": "XM_047448217.1",
"protein_id": "XP_047304173.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1457,
"cds_start": 3113,
"cds_end": null,
"cds_length": 4374,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 7191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3242G>A",
"hgvs_p": "p.Gly1081Asp",
"transcript": "XM_047448220.1",
"protein_id": "XP_047304176.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1456,
"cds_start": 3242,
"cds_end": null,
"cds_length": 4371,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3236G>A",
"hgvs_p": "p.Gly1079Asp",
"transcript": "XM_047448221.1",
"protein_id": "XP_047304177.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1454,
"cds_start": 3236,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 7182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3233G>A",
"hgvs_p": "p.Gly1078Asp",
"transcript": "XM_047448228.1",
"protein_id": "XP_047304184.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1453,
"cds_start": 3233,
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"cds_length": 4362,
"cdna_start": 3473,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3113G>A",
"hgvs_p": "p.Gly1038Asp",
"transcript": "XM_047448229.1",
"protein_id": "XP_047304185.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1413,
"cds_start": 3113,
"cds_end": null,
"cds_length": 4242,
"cdna_start": 3353,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3104G>A",
"hgvs_p": "p.Gly1035Asp",
"transcript": "XM_047448232.1",
"protein_id": "XP_047304188.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1410,
"cds_start": 3104,
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"cds_length": 4233,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 7050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.2927G>A",
"hgvs_p": "p.Gly976Asp",
"transcript": "XM_011540887.3",
"protein_id": "XP_011539189.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1395,
"cds_start": 2927,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 3093,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.2921G>A",
"hgvs_p": "p.Gly974Asp",
"transcript": "XM_047448238.1",
"protein_id": "XP_047304194.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1393,
"cds_start": 2921,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3050G>A",
"hgvs_p": "p.Gly1017Asp",
"transcript": "XM_047448239.1",
"protein_id": "XP_047304195.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1392,
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"cdna_start": 3216,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.3551G>A",
"hgvs_p": "p.Gly1184Asp",
"transcript": "XM_011540888.4",
"protein_id": "XP_011539190.1",
"transcript_support_level": null,
"aa_start": 1184,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3551,
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"cdna_start": 3926,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.2927G>A",
"hgvs_p": "p.Gly976Asp",
"transcript": "XM_047448242.1",
"protein_id": "XP_047304198.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1351,
"cds_start": 2927,
"cds_end": null,
"cds_length": 4056,
"cdna_start": 3093,
"cdna_end": null,
"cdna_length": 6799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "c.2921G>A",
"hgvs_p": "p.Gly974Asp",
"transcript": "XM_047448245.1",
"protein_id": "XP_047304201.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1349,
"cds_start": 2921,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
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"protein_id": "XP_047304203.1",
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"aa_start": 1017,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3050,
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"cds_length": 4050,
"cdna_start": 3216,
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"cdna_length": 6793,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "MEGF6",
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"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Gly933Asp",
"transcript": "XM_047448251.1",
"protein_id": "XP_047304207.1",
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"aa_start": 933,
"aa_end": null,
"aa_length": 1308,
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"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 6670,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "MEGF6",
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"hgvs_c": "c.2789G>A",
"hgvs_p": "p.Gly930Asp",
"transcript": "XM_047448255.1",
"protein_id": "XP_047304211.1",
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"aa_start": 930,
"aa_end": null,
"aa_length": 1305,
"cds_start": 2789,
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"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 6661,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "MEGF6",
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"hgvs_c": "c.2600G>A",
"hgvs_p": "p.Gly867Asp",
"transcript": "XM_047448256.1",
"protein_id": "XP_047304212.1",
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"aa_start": 867,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2600,
"cds_end": null,
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"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 7375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
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"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"hgvs_c": "n.3517G>A",
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"transcript": "ENST00000485002.6",
"protein_id": "ENSP00000419033.2",
"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,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MEGF6",
"gene_hgnc_id": 3232,
"dbsnp": "rs777814775",
"frequency_reference_population": 0.000005174477,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000430471,
"gnomad_genomes_af": 0.0000131382,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6875388026237488,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1644,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.149,
"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": 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": "ENST00000356575.9",
"gene_symbol": "MEGF6",
"hgnc_id": 3232,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3365G>A",
"hgvs_p": "p.Gly1122Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}