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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: 12-109933097-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109933097&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109933097,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_057169.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Asp721Asn",
"transcript": "NM_057169.5",
"protein_id": "NP_476510.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 759,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355312.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057169.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Asp721Asn",
"transcript": "ENST00000355312.8",
"protein_id": "ENSP00000347464.3",
"transcript_support_level": 1,
"aa_start": 721,
"aa_end": null,
"aa_length": 759,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_057169.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355312.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Asp643Asn",
"transcript": "ENST00000457474.6",
"protein_id": "ENSP00000391813.2",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 681,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457474.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Asp720Asn",
"transcript": "ENST00000876497.1",
"protein_id": "ENSP00000546556.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 758,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876497.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Asp720Asn",
"transcript": "ENST00000876510.1",
"protein_id": "ENSP00000546569.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 758,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876510.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2116G>A",
"hgvs_p": "p.Asp706Asn",
"transcript": "ENST00000876499.1",
"protein_id": "ENSP00000546558.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 744,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876499.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Asp705Asn",
"transcript": "ENST00000876494.1",
"protein_id": "ENSP00000546553.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 743,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876494.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "NM_001135214.3",
"protein_id": "NP_001128686.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 729,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135214.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Asp691Asn",
"transcript": "ENST00000361006.9",
"protein_id": "ENSP00000354282.5",
"transcript_support_level": 5,
"aa_start": 691,
"aa_end": null,
"aa_length": 729,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361006.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Asp690Asn",
"transcript": "ENST00000876504.1",
"protein_id": "ENSP00000546563.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 728,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876504.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2026G>A",
"hgvs_p": "p.Asp676Asn",
"transcript": "ENST00000876503.1",
"protein_id": "ENSP00000546562.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 714,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876503.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2023G>A",
"hgvs_p": "p.Asp675Asn",
"transcript": "ENST00000935696.1",
"protein_id": "ENSP00000605755.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 713,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935696.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2011G>A",
"hgvs_p": "p.Asp671Asn",
"transcript": "ENST00000876495.1",
"protein_id": "ENSP00000546554.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 709,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876495.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Asp670Asn",
"transcript": "NM_001330153.2",
"protein_id": "NP_001317082.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 708,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330153.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Asp670Asn",
"transcript": "ENST00000551209.5",
"protein_id": "ENSP00000448832.1",
"transcript_support_level": 5,
"aa_start": 670,
"aa_end": null,
"aa_length": 708,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551209.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1927G>A",
"hgvs_p": "p.Asp643Asn",
"transcript": "NM_001135213.3",
"protein_id": "NP_001128685.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 681,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135213.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Asp641Asn",
"transcript": "NM_014776.5",
"protein_id": "NP_055591.2",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 679,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014776.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Asp641Asn",
"transcript": "ENST00000876500.1",
"protein_id": "ENSP00000546559.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 679,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876500.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Asp640Asn",
"transcript": "ENST00000876509.1",
"protein_id": "ENSP00000546568.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 678,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876509.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1912G>A",
"hgvs_p": "p.Asp638Asn",
"transcript": "ENST00000876501.1",
"protein_id": "ENSP00000546560.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 676,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876501.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1909G>A",
"hgvs_p": "p.Asp637Asn",
"transcript": "ENST00000876506.1",
"protein_id": "ENSP00000546565.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 675,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876506.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1867G>A",
"hgvs_p": "p.Asp623Asn",
"transcript": "ENST00000876508.1",
"protein_id": "ENSP00000546567.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 661,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1986,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000549524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "n.756G>A",
"hgvs_p": null,
"transcript": "ENST00000552978.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000552978.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
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"gene_symbol": "TCHP",
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"hgvs_c": "n.*275+13C>T",
"hgvs_p": null,
"transcript": "ENST00000544838.5",
"protein_id": "ENSP00000440838.1",
"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": "ENST00000544838.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "n.41+13C>T",
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"transcript": "ENST00000550780.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000550780.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "n.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000548000.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000548000.5"
}
],
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"dbsnp": "rs772872967",
"frequency_reference_population": 0.0000012400394,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84614e-7,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19422227144241333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.167,
"revel_prediction": "Benign",
"alphamissense_score": 0.0818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_057169.5",
"gene_symbol": "GIT2",
"hgnc_id": 4273,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Asp721Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000549524.1",
"gene_symbol": "TCHP",
"hgnc_id": 28135,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.2374C>T",
"hgvs_p": null
}
],
"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
}