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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: 5-72877257-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=72877257&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 72877257,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002270.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "NM_002270.4",
"protein_id": "NP_002261.3",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 898,
"cds_start": 831,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337273.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002270.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "ENST00000337273.10",
"protein_id": "ENSP00000336712.5",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 898,
"cds_start": 831,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002270.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337273.10"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.807T>G",
"hgvs_p": "p.Asp269Glu",
"transcript": "ENST00000506351.6",
"protein_id": "ENSP00000425118.2",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 890,
"cds_start": 807,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506351.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.897T>G",
"hgvs_p": "p.Asp299Glu",
"transcript": "ENST00000944758.1",
"protein_id": "ENSP00000614817.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 920,
"cds_start": 897,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944758.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "ENST00000895477.1",
"protein_id": "ENSP00000565536.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 898,
"cds_start": 831,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895477.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "ENST00000895479.1",
"protein_id": "ENSP00000565538.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 896,
"cds_start": 831,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895479.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.807T>G",
"hgvs_p": "p.Asp269Glu",
"transcript": "NM_001364292.3",
"protein_id": "NP_001351221.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 890,
"cds_start": 807,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364292.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.807T>G",
"hgvs_p": "p.Asp269Glu",
"transcript": "NM_001364293.3",
"protein_id": "NP_001351222.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 890,
"cds_start": 807,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364293.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.807T>G",
"hgvs_p": "p.Asp269Glu",
"transcript": "NM_153188.4",
"protein_id": "NP_694858.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 890,
"cds_start": 807,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153188.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "ENST00000680533.1",
"protein_id": "ENSP00000505688.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 870,
"cds_start": 831,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680533.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "ENST00000895480.1",
"protein_id": "ENSP00000565539.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 865,
"cds_start": 831,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895480.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.807T>G",
"hgvs_p": "p.Asp269Glu",
"transcript": "NM_001364294.3",
"protein_id": "NP_001351223.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 858,
"cds_start": 807,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364294.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.807T>G",
"hgvs_p": "p.Asp269Glu",
"transcript": "ENST00000679378.1",
"protein_id": "ENSP00000506620.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 858,
"cds_start": 807,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679378.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.681T>G",
"hgvs_p": "p.Asp227Glu",
"transcript": "NM_001364295.3",
"protein_id": "NP_001351224.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 848,
"cds_start": 681,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364295.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.681T>G",
"hgvs_p": "p.Asp227Glu",
"transcript": "ENST00000523768.5",
"protein_id": "ENSP00000428899.1",
"transcript_support_level": 2,
"aa_start": 227,
"aa_end": null,
"aa_length": 848,
"cds_start": 681,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523768.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "ENST00000895481.1",
"protein_id": "ENSP00000565540.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 847,
"cds_start": 831,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895481.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "ENST00000895478.1",
"protein_id": "ENSP00000565537.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 815,
"cds_start": 831,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895478.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "XM_047417167.1",
"protein_id": "XP_047273123.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 898,
"cds_start": 831,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417167.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu",
"transcript": "XM_005248501.3",
"protein_id": "XP_005248558.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 866,
"cds_start": 831,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248501.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "c.807T>G",
"hgvs_p": "p.Asp269Glu",
"transcript": "XM_047417168.1",
"protein_id": "XP_047273124.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 858,
"cds_start": 807,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417168.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "n.83T>G",
"hgvs_p": null,
"transcript": "ENST00000505082.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000505082.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "n.378T>G",
"hgvs_p": null,
"transcript": "ENST00000508762.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000508762.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
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"hgvs_c": "n.*179T>G",
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"transcript": "ENST00000520850.5",
"protein_id": "ENSP00000430312.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000520850.5"
},
{
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
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"hgvs_c": "n.831T>G",
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"transcript": "ENST00000680025.1",
"protein_id": "ENSP00000505584.1",
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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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "n.708T>G",
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"transcript": "ENST00000681711.1",
"protein_id": "ENSP00000505378.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000681711.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"hgvs_c": "n.*179T>G",
"hgvs_p": null,
"transcript": "ENST00000520850.5",
"protein_id": "ENSP00000430312.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000520850.5"
}
],
"gene_symbol": "TNPO1",
"gene_hgnc_id": 6401,
"dbsnp": "rs1218778983",
"frequency_reference_population": 0.0000054795196,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547952,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20804819464683533,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.374,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.133,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002270.4",
"gene_symbol": "TNPO1",
"hgnc_id": 6401,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.831T>G",
"hgvs_p": "p.Asp277Glu"
}
],
"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
}