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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: 17-36953815-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=36953815&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 36953815,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012138.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "NM_012138.4",
"protein_id": "NP_036270.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 560,
"cds_start": 740,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000619387.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012138.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000619387.5",
"protein_id": "ENSP00000477848.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 560,
"cds_start": 740,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012138.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619387.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000905217.1",
"protein_id": "ENSP00000575276.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 562,
"cds_start": 740,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905217.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000953116.1",
"protein_id": "ENSP00000623175.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 559,
"cds_start": 740,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953116.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000937261.1",
"protein_id": "ENSP00000607320.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 549,
"cds_start": 740,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937261.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000679997.1",
"protein_id": "ENSP00000505070.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 540,
"cds_start": 740,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679997.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "NM_001411094.1",
"protein_id": "NP_001398023.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 536,
"cds_start": 740,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411094.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000680340.1",
"protein_id": "ENSP00000506264.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 536,
"cds_start": 740,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680340.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000905215.1",
"protein_id": "ENSP00000575274.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 533,
"cds_start": 740,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905215.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000905218.1",
"protein_id": "ENSP00000575277.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 532,
"cds_start": 740,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905218.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "ENST00000905216.1",
"protein_id": "ENSP00000575275.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 509,
"cds_start": 740,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905216.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.329C>T",
"hgvs_p": "p.Ala110Val",
"transcript": "ENST00000937263.1",
"protein_id": "ENSP00000607322.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 423,
"cds_start": 329,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937263.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"transcript": "ENST00000679881.1",
"protein_id": "ENSP00000504972.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 397,
"cds_start": 251,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679881.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"transcript": "ENST00000681062.1",
"protein_id": "ENSP00000506608.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 397,
"cds_start": 251,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681062.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"transcript": "ENST00000680782.1",
"protein_id": "ENSP00000506681.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 373,
"cds_start": 251,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680782.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.137C>T",
"hgvs_p": "p.Ala46Val",
"transcript": "ENST00000937264.1",
"protein_id": "ENSP00000607323.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 359,
"cds_start": 137,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937264.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val",
"transcript": "XM_047435748.1",
"protein_id": "XP_047291704.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 288,
"cds_start": 740,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435748.1"
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.694+519C>T",
"hgvs_p": null,
"transcript": "ENST00000616434.2",
"protein_id": "ENSP00000477881.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": null,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616434.2"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.283+3410C>T",
"hgvs_p": null,
"transcript": "ENST00000937262.1",
"protein_id": "ENSP00000607321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937262.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "c.91+4599C>T",
"hgvs_p": null,
"transcript": "ENST00000953117.1",
"protein_id": "ENSP00000623176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953117.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "n.160C>T",
"hgvs_p": null,
"transcript": "ENST00000613840.1",
"protein_id": "ENSP00000479926.1",
"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": "ENST00000613840.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"hgvs_c": "n.941C>T",
"hgvs_p": null,
"transcript": "ENST00000679508.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000679508.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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{
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"protein_coding": false,
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],
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"feature": "ENST00000680330.1"
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{
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"protein_coding": false,
"strand": true,
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],
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{
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],
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{
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],
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"gene_symbol": "AATF",
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"feature": "ENST00000680807.1"
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{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "AATF",
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"transcript": "ENST00000681800.1",
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"biotype": "retained_intron",
"feature": "ENST00000681800.1"
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],
"gene_symbol": "AATF",
"gene_hgnc_id": 19235,
"dbsnp": "rs796424851",
"frequency_reference_population": 0.000019826248,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000198378,
"gnomad_genomes_af": 0.0000197156,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30085185170173645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.1224,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.657,
"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": 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_012138.4",
"gene_symbol": "AATF",
"hgnc_id": 19235,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Ala247Val"
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],
"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
}