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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: 17-78191028-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78191028&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78191028,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145526.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "NM_001010982.5",
"protein_id": "NP_001010982.2",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 303,
"cds_start": 122,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409257.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010982.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000409257.10",
"protein_id": "ENSP00000386890.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 303,
"cds_start": 122,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010982.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409257.10"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000327898.9",
"protein_id": "ENSP00000328938.5",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 308,
"cds_start": 122,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327898.9"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000589256.5",
"protein_id": "ENSP00000466859.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 57,
"cds_start": 122,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589256.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Ala72Asp",
"transcript": "ENST00000857474.1",
"protein_id": "ENSP00000527533.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 334,
"cds_start": 215,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857474.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857484.1",
"protein_id": "ENSP00000527543.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 332,
"cds_start": 122,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857484.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000965675.1",
"protein_id": "ENSP00000635734.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 327,
"cds_start": 122,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965675.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857463.1",
"protein_id": "ENSP00000527522.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 322,
"cds_start": 122,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857463.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857469.1",
"protein_id": "ENSP00000527528.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 320,
"cds_start": 122,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857469.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857477.1",
"protein_id": "ENSP00000527536.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 314,
"cds_start": 122,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857477.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857470.1",
"protein_id": "ENSP00000527529.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 309,
"cds_start": 122,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857470.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "NM_001145526.3",
"protein_id": "NP_001138998.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 308,
"cds_start": 122,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145526.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857478.1",
"protein_id": "ENSP00000527537.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 305,
"cds_start": 122,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857478.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857464.1",
"protein_id": "ENSP00000527523.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 304,
"cds_start": 122,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857464.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857480.1",
"protein_id": "ENSP00000527539.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 273,
"cds_start": 122,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857480.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857481.1",
"protein_id": "ENSP00000527540.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 273,
"cds_start": 122,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857481.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857465.1",
"protein_id": "ENSP00000527524.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 268,
"cds_start": 122,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857465.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857479.1",
"protein_id": "ENSP00000527538.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 255,
"cds_start": 122,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857479.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857483.1",
"protein_id": "ENSP00000527542.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 250,
"cds_start": 122,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857483.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "NM_001391999.1",
"protein_id": "NP_001378928.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 240,
"cds_start": 122,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001391999.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857466.1",
"protein_id": "ENSP00000527525.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 226,
"cds_start": 122,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857466.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp",
"transcript": "ENST00000857485.1",
"protein_id": "ENSP00000527544.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 223,
"cds_start": 122,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857485.1"
},
{
"aa_ref": "A",
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"feature": "ENST00000589107.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"biotype": "retained_intron",
"feature": "ENST00000592988.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"gene_symbol": "AFMID",
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"transcript": "NR_027083.2",
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"biotype": "pseudogene",
"feature": "NR_027083.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 8,
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"gene_symbol": "AFMID",
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"transcript": "XR_007065262.1",
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"biotype": "pseudogene",
"feature": "XR_007065262.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 8,
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"gene_symbol": "AFMID",
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"hgvs_c": "n.131C>A",
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"transcript": "XR_934369.2",
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"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_934369.2"
}
],
"gene_symbol": "AFMID",
"gene_hgnc_id": 20910,
"dbsnp": "rs758457659",
"frequency_reference_population": 0.0000068408062,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684081,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33420372009277344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.4707,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.778,
"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": 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_001145526.3",
"gene_symbol": "AFMID",
"hgnc_id": 20910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ala41Asp"
}
],
"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
}