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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: 3-69023317-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69023317&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69023317,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363879.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3142T>A",
"hgvs_p": "p.Leu1048Met",
"transcript": "NM_007114.3",
"protein_id": "NP_009045.2",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "ENST00000398559.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007114.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3142T>A",
"hgvs_p": "p.Leu1048Met",
"transcript": "ENST00000398559.7",
"protein_id": "ENSP00000381567.2",
"transcript_support_level": 1,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": "NM_007114.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398559.7"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3157T>A",
"hgvs_p": "p.Leu1053Met",
"transcript": "ENST00000948167.1",
"protein_id": "ENSP00000618226.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3336,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948167.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3151T>A",
"hgvs_p": "p.Leu1051Met",
"transcript": "NM_001363879.1",
"protein_id": "NP_001350808.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1096,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 6888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363879.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3151T>A",
"hgvs_p": "p.Leu1051Met",
"transcript": "ENST00000646708.1",
"protein_id": "ENSP00000494067.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1096,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3291,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646708.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3139T>A",
"hgvs_p": "p.Leu1047Met",
"transcript": "ENST00000936590.1",
"protein_id": "ENSP00000606649.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936590.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3133T>A",
"hgvs_p": "p.Leu1045Met",
"transcript": "ENST00000948162.1",
"protein_id": "ENSP00000618221.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1090,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 3329,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948162.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3040T>A",
"hgvs_p": "p.Leu1014Met",
"transcript": "ENST00000948164.1",
"protein_id": "ENSP00000618223.1",
"transcript_support_level": null,
"aa_start": 1014,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3040,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 3215,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948164.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3016T>A",
"hgvs_p": "p.Leu1006Met",
"transcript": "ENST00000948163.1",
"protein_id": "ENSP00000618222.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948163.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2818T>A",
"hgvs_p": "p.Leu940Met",
"transcript": "ENST00000646304.1",
"protein_id": "ENSP00000496378.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 985,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 6546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646304.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.2803T>A",
"hgvs_p": "p.Leu935Met",
"transcript": "ENST00000948165.1",
"protein_id": "ENSP00000618224.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 980,
"cds_start": 2803,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948165.1"
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "c.3148-30T>A",
"hgvs_p": null,
"transcript": "ENST00000948166.1",
"protein_id": "ENSP00000618225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1085,
"cds_start": null,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948166.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "n.*627T>A",
"hgvs_p": null,
"transcript": "ENST00000488010.5",
"protein_id": "ENSP00000419330.1",
"transcript_support_level": 5,
"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": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"hgvs_c": "n.*627T>A",
"hgvs_p": null,
"transcript": "ENST00000488010.5",
"protein_id": "ENSP00000419330.1",
"transcript_support_level": 5,
"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": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.261+9116A>T",
"hgvs_p": null,
"transcript": "ENST00000482368.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 962,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482368.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.38+9116A>T",
"hgvs_p": null,
"transcript": "ENST00000595925.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 745,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000595925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.71+9257A>T",
"hgvs_p": null,
"transcript": "ENST00000596523.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 448,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000596523.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.60+9257A>T",
"hgvs_p": null,
"transcript": "ENST00000596732.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 613,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000596732.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.39-6548A>T",
"hgvs_p": null,
"transcript": "ENST00000597366.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 853,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000597366.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.219-6548A>T",
"hgvs_p": null,
"transcript": "ENST00000597950.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 725,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000597950.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.141+9116A>T",
"hgvs_p": null,
"transcript": "ENST00000598783.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000598783.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.38+9116A>T",
"hgvs_p": null,
"transcript": "ENST00000599467.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 523,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000599467.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.39-6548A>T",
"hgvs_p": null,
"transcript": "ENST00000601511.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 453,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000601511.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
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"hgvs_c": "n.38-6548A>T",
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"transcript": "ENST00000601735.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 597,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000601735.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
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"hgvs_c": "n.210+9116A>T",
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"transcript": "ENST00000610844.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000610844.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EOGT-DT",
"gene_hgnc_id": 55605,
"hgvs_c": "n.193+9116A>T",
"hgvs_p": null,
"transcript": "ENST00000767418.1",
"protein_id": null,
"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": 426,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000767418.1"
}
],
"gene_symbol": "TMF1",
"gene_hgnc_id": 11870,
"dbsnp": "rs777974167",
"frequency_reference_population": 0.0000904096,
"hom_count_reference_population": 0,
"allele_count_reference_population": 145,
"gnomad_exomes_af": 0.000095747,
"gnomad_genomes_af": 0.0000394555,
"gnomad_exomes_ac": 139,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5665844678878784,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.594,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.804,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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": "NM_001363879.1",
"gene_symbol": "TMF1",
"hgnc_id": 11870,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3151T>A",
"hgvs_p": "p.Leu1051Met"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000482368.2",
"gene_symbol": "EOGT-DT",
"hgnc_id": 55605,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.261+9116A>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
}