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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: 22-20973822-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20973822&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20973822,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144704.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "NM_001386814.1",
"protein_id": "NP_001373743.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 605,
"cds_start": 310,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440238.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386814.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000440238.4",
"protein_id": "ENSP00000390798.2",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 605,
"cds_start": 310,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001386814.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440238.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000399163.6",
"protein_id": "ENSP00000382116.2",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 598,
"cds_start": 310,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399163.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "NM_144704.3",
"protein_id": "NP_653305.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 605,
"cds_start": 310,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144704.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000399167.6",
"protein_id": "ENSP00000382120.2",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 605,
"cds_start": 310,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399167.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000961526.1",
"protein_id": "ENSP00000631585.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 605,
"cds_start": 310,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961526.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Ala110Ser",
"transcript": "NM_001146288.2",
"protein_id": "NP_001139760.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 604,
"cds_start": 328,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146288.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Ala110Ser",
"transcript": "ENST00000405089.5",
"protein_id": "ENSP00000385800.1",
"transcript_support_level": 2,
"aa_start": 110,
"aa_end": null,
"aa_length": 604,
"cds_start": 328,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405089.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000961517.1",
"protein_id": "ENSP00000631576.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 603,
"cds_start": 310,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961517.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000884445.1",
"protein_id": "ENSP00000554504.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 601,
"cds_start": 310,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884445.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000884442.1",
"protein_id": "ENSP00000554501.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 599,
"cds_start": 310,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884442.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "NM_001018060.3",
"protein_id": "NP_001018070.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 598,
"cds_start": 310,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018060.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000683034.1",
"protein_id": "ENSP00000507958.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 598,
"cds_start": 310,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683034.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000884440.1",
"protein_id": "ENSP00000554499.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 598,
"cds_start": 310,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884440.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000884447.1",
"protein_id": "ENSP00000554506.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 598,
"cds_start": 310,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884447.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000884450.1",
"protein_id": "ENSP00000554509.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 598,
"cds_start": 310,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884450.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000884451.1",
"protein_id": "ENSP00000554510.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 598,
"cds_start": 310,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884451.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000961520.1",
"protein_id": "ENSP00000631579.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 598,
"cds_start": 310,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961520.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000961519.1",
"protein_id": "ENSP00000631578.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 597,
"cds_start": 310,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961519.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000434714.6",
"protein_id": "ENSP00000399657.3",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 596,
"cds_start": 310,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434714.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000884441.1",
"protein_id": "ENSP00000554500.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 596,
"cds_start": 310,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884441.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser",
"transcript": "ENST00000884443.1",
"protein_id": "ENSP00000554502.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 596,
"cds_start": 310,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"biotype": "pseudogene",
"feature": "ENST00000468124.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 5,
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"biotype": "pseudogene",
"feature": "ENST00000496097.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 19,
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"gene_symbol": "AIFM3",
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"transcript": "NR_027464.2",
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"biotype": "pseudogene",
"feature": "NR_027464.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "AIFM3",
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"biotype": "retained_intron",
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{
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"strand": true,
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],
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"exon_count": 4,
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"gene_symbol": "AIFM3",
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"transcript": "ENST00000472575.5",
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"biotype": "retained_intron",
"feature": "ENST00000472575.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "AIFM3",
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"hgvs_c": "n.*144G>T",
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"transcript": "ENST00000484206.5",
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"transcript_support_level": 4,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000484206.5"
}
],
"gene_symbol": "AIFM3",
"gene_hgnc_id": 26398,
"dbsnp": "rs367600638",
"frequency_reference_population": 6.999301e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.9993e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9775112867355347,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.629,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4473,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.047,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_144704.3",
"gene_symbol": "AIFM3",
"hgnc_id": 26398,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.310G>T",
"hgvs_p": "p.Ala104Ser"
}
],
"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
}