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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: 14-93939136-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=93939136&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 93939136,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001202429.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "NM_001202429.2",
"protein_id": "NP_001189358.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": "ENST00000555019.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202429.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000555019.6",
"protein_id": "ENSP00000451575.1",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": "NM_001202429.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555019.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1445C>A",
"hgvs_p": "p.Ala482Glu",
"transcript": "ENST00000315988.8",
"protein_id": "ENSP00000320675.4",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 587,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315988.8"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1664C>A",
"hgvs_p": "p.Ala555Glu",
"transcript": "ENST00000968954.1",
"protein_id": "ENSP00000639013.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 660,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968954.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1619C>A",
"hgvs_p": "p.Ala540Glu",
"transcript": "ENST00000968955.1",
"protein_id": "ENSP00000639014.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 645,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968955.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1613C>A",
"hgvs_p": "p.Ala538Glu",
"transcript": "ENST00000968959.1",
"protein_id": "ENSP00000639018.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 643,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968959.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1607C>A",
"hgvs_p": "p.Ala536Glu",
"transcript": "ENST00000968942.1",
"protein_id": "ENSP00000639001.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 641,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968942.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000891201.1",
"protein_id": "ENSP00000561260.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891201.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000891203.1",
"protein_id": "ENSP00000561262.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891203.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000891204.1",
"protein_id": "ENSP00000561263.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891204.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000891205.1",
"protein_id": "ENSP00000561264.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 2865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891205.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000891210.1",
"protein_id": "ENSP00000561269.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891210.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000891211.1",
"protein_id": "ENSP00000561270.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891211.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000891212.1",
"protein_id": "ENSP00000561271.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891212.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000968939.1",
"protein_id": "ENSP00000638998.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968939.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000968940.1",
"protein_id": "ENSP00000638999.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968940.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000968943.1",
"protein_id": "ENSP00000639002.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968943.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000968944.1",
"protein_id": "ENSP00000639003.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968944.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000968945.1",
"protein_id": "ENSP00000639004.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968945.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000968946.1",
"protein_id": "ENSP00000639005.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968946.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000968951.1",
"protein_id": "ENSP00000639010.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968951.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu",
"transcript": "ENST00000968961.1",
"protein_id": "ENSP00000639020.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 635,
"cds_start": 1589,
"cds_end": null,
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"aa_end": null,
"aa_length": 600,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1694,
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"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021369.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1433C>A",
"hgvs_p": "p.Ala478Glu",
"transcript": "XM_011536834.4",
"protein_id": "XP_011535136.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 583,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1643,
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"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536834.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1328C>A",
"hgvs_p": "p.Ala443Glu",
"transcript": "XM_047431473.1",
"protein_id": "XP_047287429.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 548,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431473.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "c.1283C>A",
"hgvs_p": "p.Ala428Glu",
"transcript": "XM_011536835.4",
"protein_id": "XP_011535137.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 533,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536835.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "n.1360C>A",
"hgvs_p": null,
"transcript": "ENST00000553883.1",
"protein_id": null,
"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": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"hgvs_c": "n.*199C>A",
"hgvs_p": null,
"transcript": "ENST00000556337.1",
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000556337.1"
}
],
"gene_symbol": "ASB2",
"gene_hgnc_id": 16012,
"dbsnp": "rs200328766",
"frequency_reference_population": 0.000018101162,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000186426,
"gnomad_genomes_af": 0.0000131399,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03760644793510437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.0962,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.022,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001202429.2",
"gene_symbol": "ASB2",
"hgnc_id": 16012,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Ala530Glu"
}
],
"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
}