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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: 12-109945336-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109945336&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109945336,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355312.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1655C>T",
"hgvs_p": "p.Ala552Val",
"transcript": "NM_057169.5",
"protein_id": "NP_476510.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 759,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": "ENST00000355312.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1655C>T",
"hgvs_p": "p.Ala552Val",
"transcript": "ENST00000355312.8",
"protein_id": "ENSP00000347464.3",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 759,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": "NM_057169.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1497+1920C>T",
"hgvs_p": null,
"transcript": "ENST00000457474.6",
"protein_id": "ENSP00000391813.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Ala501Val",
"transcript": "NM_001330153.2",
"protein_id": "NP_001317082.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 708,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Ala501Val",
"transcript": "ENST00000551209.5",
"protein_id": "ENSP00000448832.1",
"transcript_support_level": 5,
"aa_start": 501,
"aa_end": null,
"aa_length": 708,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Ala551Val",
"transcript": "XM_005253997.5",
"protein_id": "XP_005254054.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 758,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1610C>T",
"hgvs_p": "p.Ala537Val",
"transcript": "XM_006719707.5",
"protein_id": "XP_006719770.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 744,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 5553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Ala536Val",
"transcript": "XM_047429922.1",
"protein_id": "XP_047285878.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 743,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ala502Val",
"transcript": "XM_006719709.5",
"protein_id": "XP_006719772.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 709,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ala490Val",
"transcript": "XM_047429926.1",
"protein_id": "XP_047285882.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 697,
"cds_start": 1469,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1424C>T",
"hgvs_p": "p.Ala475Val",
"transcript": "XM_047429924.1",
"protein_id": "XP_047285880.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 682,
"cds_start": 1424,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 5570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1641+1920C>T",
"hgvs_p": null,
"transcript": "NM_001135214.3",
"protein_id": "NP_001128686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1641+1920C>T",
"hgvs_p": null,
"transcript": "ENST00000361006.9",
"protein_id": "ENSP00000354282.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1497+1920C>T",
"hgvs_p": null,
"transcript": "NM_001135213.3",
"protein_id": "NP_001128685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
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"cds_length": 2046,
"cdna_start": null,
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"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1491+1920C>T",
"hgvs_p": null,
"transcript": "NM_014776.5",
"protein_id": "NP_055591.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1455+1920C>T",
"hgvs_p": null,
"transcript": "ENST00000550186.5",
"protein_id": "ENSP00000473637.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1925,
"cdna_start": null,
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"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1347+5876C>T",
"hgvs_p": null,
"transcript": "NM_057170.5",
"protein_id": "NP_476511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1347+5876C>T",
"hgvs_p": null,
"transcript": "ENST00000553118.5",
"protein_id": "ENSP00000447465.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "n.*276-7782G>A",
"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": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "n.3200+1920C>T",
"hgvs_p": null,
"transcript": "ENST00000549999.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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+12252G>A",
"hgvs_p": null,
"transcript": "ENST00000550780.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1638+1920C>T",
"hgvs_p": null,
"transcript": "XM_047429923.1",
"protein_id": "XP_047285879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": -4,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.1596+1920C>T",
"hgvs_p": null,
"transcript": "XM_006719708.5",
"protein_id": "XP_006719771.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
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"cds_length": 2145,
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},
{
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"transcript": "XM_017020258.3",
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},
{
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"intron_variant"
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"gene_symbol": "GIT2",
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"hgvs_c": "c.1488+1920C>T",
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"transcript": "XM_047429925.1",
"protein_id": "XP_047285881.1",
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},
{
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"protein_coding": true,
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"intron_variant"
],
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"gene_symbol": "GIT2",
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"hgvs_c": "c.1243-6089C>T",
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"transcript": "XM_006719712.5",
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"feature": null
}
],
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"dbsnp": "rs11068997",
"frequency_reference_population": 0.034789436,
"hom_count_reference_population": 1261,
"allele_count_reference_population": 53227,
"gnomad_exomes_af": 0.0329181,
"gnomad_genomes_af": 0.0517271,
"gnomad_exomes_ac": 45353,
"gnomad_genomes_ac": 7874,
"gnomad_exomes_homalt": 968,
"gnomad_genomes_homalt": 293,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0015673637390136719,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.1291,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.691,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355312.8",
"gene_symbol": "GIT2",
"hgnc_id": 4273,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1655C>T",
"hgvs_p": "p.Ala552Val"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000544838.5",
"gene_symbol": "TCHP",
"hgnc_id": 28135,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*276-7782G>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}