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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: 4-54738476-G-GGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54738476&ref=G&alt=GGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 54738476,
"ref": "G",
"alt": "GGT",
"effect": "frameshift_variant",
"transcript": "ENST00000288135.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2851_2852dupGT",
"hgvs_p": "p.Asp952fs",
"transcript": "NM_000222.3",
"protein_id": "NP_000213.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 976,
"cds_start": 2853,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "ENST00000288135.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2851_2852dupGT",
"hgvs_p": "p.Asp952fs",
"transcript": "ENST00000288135.6",
"protein_id": "ENSP00000288135.6",
"transcript_support_level": 1,
"aa_start": 951,
"aa_end": null,
"aa_length": 976,
"cds_start": 2853,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "NM_000222.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2839_2840dupGT",
"hgvs_p": "p.Asp948fs",
"transcript": "ENST00000412167.7",
"protein_id": "ENSP00000390987.3",
"transcript_support_level": 1,
"aa_start": 947,
"aa_end": null,
"aa_length": 972,
"cds_start": 2841,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2854_2855dupGT",
"hgvs_p": "p.Asp953fs",
"transcript": "NM_001385284.1",
"protein_id": "NP_001372213.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 977,
"cds_start": 2856,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2854_2855dupGT",
"hgvs_p": "p.Asp953fs",
"transcript": "ENST00000687109.1",
"protein_id": "ENSP00000509371.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 977,
"cds_start": 2856,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2958,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2851_2852dupGT",
"hgvs_p": "p.Asp952fs",
"transcript": "NM_001385290.1",
"protein_id": "NP_001372219.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 976,
"cds_start": 2853,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2851_2852dupGT",
"hgvs_p": "p.Asp952fs",
"transcript": "ENST00000689832.1",
"protein_id": "ENSP00000509084.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 976,
"cds_start": 2853,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2848_2849dupGT",
"hgvs_p": "p.Asp951fs",
"transcript": "NM_001385285.1",
"protein_id": "NP_001372214.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 975,
"cds_start": 2850,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2908,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2848_2849dupGT",
"hgvs_p": "p.Asp951fs",
"transcript": "ENST00000692783.1",
"protein_id": "ENSP00000508733.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 975,
"cds_start": 2850,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2842_2843dupGT",
"hgvs_p": "p.Asp949fs",
"transcript": "NM_001385288.1",
"protein_id": "NP_001372217.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 973,
"cds_start": 2844,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2902,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2842_2843dupGT",
"hgvs_p": "p.Asp949fs",
"transcript": "ENST00000690543.1",
"protein_id": "ENSP00000508831.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 973,
"cds_start": 2844,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2902,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2839_2840dupGT",
"hgvs_p": "p.Asp948fs",
"transcript": "NM_001093772.2",
"protein_id": "NP_001087241.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 972,
"cds_start": 2841,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2839_2840dupGT",
"hgvs_p": "p.Asp948fs",
"transcript": "NM_001385292.1",
"protein_id": "NP_001372221.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 972,
"cds_start": 2841,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2839_2840dupGT",
"hgvs_p": "p.Asp948fs",
"transcript": "ENST00000687295.1",
"protein_id": "ENSP00000509450.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 972,
"cds_start": 2841,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 5271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2836_2837dupGT",
"hgvs_p": "p.Asp947fs",
"transcript": "NM_001385286.1",
"protein_id": "NP_001372215.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 971,
"cds_start": 2838,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2836_2837dupGT",
"hgvs_p": "p.Asp947fs",
"transcript": "ENST00000686011.1",
"protein_id": "ENSP00000509704.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 971,
"cds_start": 2838,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2716_2717dupGT",
"hgvs_p": "p.Asp907fs",
"transcript": "ENST00000687246.1",
"protein_id": "ENSP00000509114.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 931,
"cds_start": 2718,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2341_2342dupGT",
"hgvs_p": "p.Asp782fs",
"transcript": "ENST00000689994.1",
"protein_id": "ENSP00000509156.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 806,
"cds_start": 2343,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.1543_1544dupGT",
"hgvs_p": null,
"transcript": "ENST00000684818.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.2929_2930dupGT",
"hgvs_p": null,
"transcript": "ENST00000685269.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.3263_3264dupGT",
"hgvs_p": null,
"transcript": "ENST00000687208.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.3009_3010dupGT",
"hgvs_p": null,
"transcript": "ENST00000687265.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.648_649dupGT",
"hgvs_p": null,
"transcript": "ENST00000688060.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.3069_3070dupGT",
"hgvs_p": null,
"transcript": "ENST00000690917.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.1761_1762dupGT",
"hgvs_p": null,
"transcript": "ENST00000691361.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "n.2948_2949dupGT",
"hgvs_p": null,
"transcript": "ENST00000692991.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"dbsnp": "rs1553893816",
"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": 0.71,
"phylop100way_prediction": "Benign",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000288135.6",
"gene_symbol": "KIT",
"hgnc_id": 6342,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2851_2852dupGT",
"hgvs_p": "p.Asp952fs"
}
],
"clinvar_disease": "Dysgerminoma",
"clinvar_classification": "other",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Dysgerminoma",
"pathogenicity_classification_combined": "other",
"custom_annotations": null
}
],
"message": null
}