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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: 11-62789633-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62789633&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62789633,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_199337.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Pro151Leu",
"transcript": "NM_199337.3",
"protein_id": "NP_955369.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 219,
"cds_start": 452,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333449.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199337.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Pro151Leu",
"transcript": "ENST00000333449.9",
"protein_id": "ENSP00000333697.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 219,
"cds_start": 452,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199337.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333449.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM223",
"gene_hgnc_id": 28464,
"hgvs_c": "c.317-1708G>A",
"hgvs_p": null,
"transcript": "ENST00000525631.1",
"protein_id": "ENSP00000436670.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": null,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525631.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Pro163Leu",
"transcript": "ENST00000892244.1",
"protein_id": "ENSP00000562303.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 231,
"cds_start": 488,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892244.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Pro139Leu",
"transcript": "ENST00000892245.1",
"protein_id": "ENSP00000562304.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 207,
"cds_start": 416,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892245.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Pro137Leu",
"transcript": "NM_001363600.1",
"protein_id": "NP_001350529.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 205,
"cds_start": 410,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363600.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Pro137Leu",
"transcript": "ENST00000892243.1",
"protein_id": "ENSP00000562302.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 205,
"cds_start": 410,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892243.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Pro116Leu",
"transcript": "ENST00000892246.1",
"protein_id": "ENSP00000562305.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 184,
"cds_start": 347,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892246.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Pro106Leu",
"transcript": "ENST00000948862.1",
"protein_id": "ENSP00000618921.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 174,
"cds_start": 317,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948862.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000948863.1",
"protein_id": "ENSP00000618922.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 172,
"cds_start": 311,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948863.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "NM_001363601.1",
"protein_id": "NP_001350530.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 164,
"cds_start": 287,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363601.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Pro96Leu",
"transcript": "ENST00000892242.1",
"protein_id": "ENSP00000562301.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 164,
"cds_start": 287,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892242.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Pro70Leu",
"transcript": "ENST00000526546.1",
"protein_id": "ENSP00000436606.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 94,
"cds_start": 209,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.419+207C>T",
"hgvs_p": null,
"transcript": "NM_001363599.1",
"protein_id": "NP_001350528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.419+207C>T",
"hgvs_p": null,
"transcript": "ENST00000533861.5",
"protein_id": "ENSP00000433055.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533861.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM223",
"gene_hgnc_id": 28464,
"hgvs_c": "c.313+2046G>A",
"hgvs_p": null,
"transcript": "ENST00000528367.1",
"protein_id": "ENSP00000431804.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "c.97-253C>T",
"hgvs_p": null,
"transcript": "ENST00000948861.1",
"protein_id": "ENSP00000618920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM223",
"gene_hgnc_id": 28464,
"hgvs_c": "c.316+2046G>A",
"hgvs_p": null,
"transcript": "XM_047427579.1",
"protein_id": "XP_047283535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM223",
"gene_hgnc_id": 28464,
"hgvs_c": "c.316+2046G>A",
"hgvs_p": null,
"transcript": "XM_047427580.1",
"protein_id": "XP_047283536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM223",
"gene_hgnc_id": 28464,
"hgvs_c": "c.316+2046G>A",
"hgvs_p": null,
"transcript": "XM_047427581.1",
"protein_id": "XP_047283537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "n.574C>T",
"hgvs_p": null,
"transcript": "ENST00000532345.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000532345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"hgvs_c": "n.305C>T",
"hgvs_p": null,
"transcript": "ENST00000532586.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000532586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "TMEM223",
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"hgvs_c": "n.65+2046G>A",
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"transcript": "ENST00000527073.1",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000527073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6748",
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"transcript": "ENST00000610433.1",
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"transcript_support_level": 6,
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"aa_end": null,
"aa_length": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "miRNA",
"feature": "ENST00000610433.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6748",
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"transcript": "NR_106806.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_106806.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6748",
"gene_hgnc_id": 50141,
"hgvs_c": "n.-187C>T",
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"transcript": "unassigned_transcript_1886",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1886"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6748",
"gene_hgnc_id": 50141,
"hgvs_c": "n.-232C>T",
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"transcript": "unassigned_transcript_1887",
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"aa_end": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1887"
}
],
"gene_symbol": "TMEM179B",
"gene_hgnc_id": 33744,
"dbsnp": "rs2084334668",
"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": 0.2676090598106384,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.1387,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.691,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199337.3",
"gene_symbol": "TMEM179B",
"hgnc_id": 33744,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Pro151Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000525631.1",
"gene_symbol": "TMEM223",
"hgnc_id": 28464,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.317-1708G>A",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_106806.1",
"gene_symbol": "MIR6748",
"hgnc_id": 50141,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-182C>T",
"hgvs_p": null
}
],
"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
}