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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: 7-154474961-AAAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=154474961&ref=AAAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 154474961,
"ref": "AAAG",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "NM_130797.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.388_390delAAG",
"hgvs_p": "p.Lys130del",
"transcript": "NM_130797.4",
"protein_id": "NP_570629.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 865,
"cds_start": 388,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377770.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130797.4"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.388_390delAAG",
"hgvs_p": "p.Lys130del",
"transcript": "ENST00000377770.8",
"protein_id": "ENSP00000367001.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 865,
"cds_start": 388,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130797.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377770.8"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.202_204delAAG",
"hgvs_p": "p.Lys68del",
"transcript": "ENST00000332007.7",
"protein_id": "ENSP00000328226.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 803,
"cds_start": 202,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332007.7"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.196_198delAAG",
"hgvs_p": "p.Lys66del",
"transcript": "ENST00000404039.5",
"protein_id": "ENSP00000385578.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 801,
"cds_start": 196,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404039.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.388_390delAAG",
"hgvs_p": "p.Lys130del",
"transcript": "ENST00000406326.5",
"protein_id": "ENSP00000384393.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 353,
"cds_start": 388,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406326.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.202_204delAAG",
"hgvs_p": "p.Lys68del",
"transcript": "ENST00000496611.2",
"protein_id": "ENSP00000516214.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 149,
"cds_start": 202,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496611.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.587_589delAAG",
"hgvs_p": null,
"transcript": "ENST00000462622.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000462622.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.205_207delAAG",
"hgvs_p": "p.Lys69del",
"transcript": "NM_001364497.2",
"protein_id": "NP_001351426.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 804,
"cds_start": 205,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364497.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.205_207delAAG",
"hgvs_p": "p.Lys69del",
"transcript": "NM_001364498.2",
"protein_id": "NP_001351427.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 804,
"cds_start": 205,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364498.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.205_207delAAG",
"hgvs_p": "p.Lys69del",
"transcript": "NM_001364499.2",
"protein_id": "NP_001351428.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 804,
"cds_start": 205,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364499.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.205_207delAAG",
"hgvs_p": "p.Lys69del",
"transcript": "NM_001364500.2",
"protein_id": "NP_001351429.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 804,
"cds_start": 205,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364500.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.205_207delAAG",
"hgvs_p": "p.Lys69del",
"transcript": "ENST00000706130.1",
"protein_id": "ENSP00000516215.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 804,
"cds_start": 205,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706130.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.202_204delAAG",
"hgvs_p": "p.Lys68del",
"transcript": "NM_001936.5",
"protein_id": "NP_001927.3",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 803,
"cds_start": 202,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001936.5"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.196_198delAAG",
"hgvs_p": "p.Lys66del",
"transcript": "NM_001039350.3",
"protein_id": "NP_001034439.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 801,
"cds_start": 196,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039350.3"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.202_204delAAG",
"hgvs_p": "p.Lys68del",
"transcript": "NM_001290252.2",
"protein_id": "NP_001277181.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 758,
"cds_start": 202,
"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": "NM_001290252.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.202_204delAAG",
"hgvs_p": "p.Lys68del",
"transcript": "ENST00000427557.1",
"protein_id": "ENSP00000397303.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 758,
"cds_start": 202,
"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": "ENST00000427557.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.196_198delAAG",
"hgvs_p": "p.Lys66del",
"transcript": "NM_001364501.2",
"protein_id": "NP_001351430.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 442,
"cds_start": 196,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364501.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.388_390delAAG",
"hgvs_p": "p.Lys130del",
"transcript": "NM_001290253.2",
"protein_id": "NP_001277182.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 353,
"cds_start": 388,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290253.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.202_204delAAG",
"hgvs_p": "p.Lys68del",
"transcript": "ENST00000619756.4",
"protein_id": "ENSP00000477855.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 291,
"cds_start": 202,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619756.4"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.202_204delAAG",
"hgvs_p": "p.Lys68del",
"transcript": "NM_001364502.2",
"protein_id": "NP_001351431.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 149,
"cds_start": 202,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364502.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.205_207delAAG",
"hgvs_p": "p.Lys69del",
"transcript": "XM_047419951.1",
"protein_id": "XP_047275907.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 804,
"cds_start": 205,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.-588_-586delAAG",
"hgvs_p": null,
"transcript": "ENST00000706151.1",
"protein_id": "ENSP00000516234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"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": "ENST00000706151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.16_18delAAG",
"hgvs_p": null,
"transcript": "ENST00000706152.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000706152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.838_840delAAG",
"hgvs_p": null,
"transcript": "NR_157195.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_157195.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.538_540delAAG",
"hgvs_p": null,
"transcript": "NR_157196.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_157196.2"
}
],
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"dbsnp": "rs773861201",
"frequency_reference_population": 0.0000055775213,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000547399,
"gnomad_genomes_af": 0.00000657186,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.252,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4_Supporting,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_130797.4",
"gene_symbol": "DPP6",
"hgnc_id": 3010,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.388_390delAAG",
"hgvs_p": "p.Lys130del"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}