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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: 2-215312609-C-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=215312609&ref=C&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 215312609,
"ref": "C",
"alt": "GGA",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_004044.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "NM_004044.7",
"protein_id": "NP_004035.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 592,
"cds_start": 131,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000236959.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004044.7"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000236959.14",
"protein_id": "ENSP00000236959.9",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 592,
"cds_start": 131,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004044.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236959.14"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.128delCinsGGA",
"hgvs_p": "p.Ala43fs",
"transcript": "ENST00000435675.5",
"protein_id": "ENSP00000415935.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 591,
"cds_start": 128,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435675.5"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000957330.1",
"protein_id": "ENSP00000627389.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 585,
"cds_start": 131,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957330.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000939851.1",
"protein_id": "ENSP00000609910.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 582,
"cds_start": 131,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939851.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000856931.1",
"protein_id": "ENSP00000526990.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 578,
"cds_start": 131,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856931.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000856930.1",
"protein_id": "ENSP00000526989.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 564,
"cds_start": 131,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856930.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000939850.1",
"protein_id": "ENSP00000609909.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 549,
"cds_start": 131,
"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": "ENST00000939850.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000939855.1",
"protein_id": "ENSP00000609914.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 540,
"cds_start": 131,
"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": "ENST00000939855.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000856929.1",
"protein_id": "ENSP00000526988.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 531,
"cds_start": 131,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856929.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000939853.1",
"protein_id": "ENSP00000609912.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 525,
"cds_start": 131,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939853.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000939852.1",
"protein_id": "ENSP00000609911.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 514,
"cds_start": 131,
"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": "ENST00000939852.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "ENST00000939854.1",
"protein_id": "ENSP00000609913.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 360,
"cds_start": 131,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939854.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "XM_047444489.1",
"protein_id": "XP_047300445.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 597,
"cds_start": 131,
"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": "XM_047444489.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "XM_047444490.1",
"protein_id": "XP_047300446.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 595,
"cds_start": 131,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444490.1"
},
{
"aa_ref": "A",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs",
"transcript": "XM_017004187.3",
"protein_id": "XP_016859676.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 557,
"cds_start": 131,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004187.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.-73delCinsGGA",
"hgvs_p": null,
"transcript": "ENST00000413174.1",
"protein_id": "ENSP00000402393.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413174.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "c.-47delCinsGGA",
"hgvs_p": null,
"transcript": "XM_047444491.1",
"protein_id": "XP_047300447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": null,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "n.*181delCinsGGA",
"hgvs_p": null,
"transcript": "ENST00000427397.5",
"protein_id": "ENSP00000394317.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427397.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "n.*228delCinsGGA",
"hgvs_p": null,
"transcript": "ENST00000443953.5",
"protein_id": "ENSP00000406792.1",
"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": "ENST00000443953.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "n.131delCinsGGA",
"hgvs_p": null,
"transcript": "ENST00000444305.5",
"protein_id": "ENSP00000388675.1",
"transcript_support_level": 4,
"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": "ENST00000444305.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "n.282delCinsGGA",
"hgvs_p": null,
"transcript": "ENST00000488712.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488712.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "n.215delCinsGGA",
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"transcript": "XR_007075418.1",
"protein_id": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007075418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "n.215delCinsGGA",
"hgvs_p": null,
"transcript": "XR_007075419.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007075419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "n.*181delCinsGGA",
"hgvs_p": null,
"transcript": "ENST00000427397.5",
"protein_id": "ENSP00000394317.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427397.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"hgvs_c": "n.*228delCinsGGA",
"hgvs_p": null,
"transcript": "ENST00000443953.5",
"protein_id": "ENSP00000406792.1",
"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": "ENST00000443953.5"
}
],
"gene_symbol": "ATIC",
"gene_hgnc_id": 794,
"dbsnp": "rs2105985030",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.836,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_004044.7",
"gene_symbol": "ATIC",
"hgnc_id": 794,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.131delCinsGGA",
"hgvs_p": "p.Ala44fs"
}
],
"clinvar_disease": "AICA-ribosiduria",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "AICA-ribosiduria",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}