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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: 7-6409977-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6409977&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6409977,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_139179.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1879A>T",
"hgvs_p": "p.Ser627Cys",
"transcript": "NM_139179.4",
"protein_id": "NP_631918.3",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 672,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297056.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139179.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1879A>T",
"hgvs_p": "p.Ser627Cys",
"transcript": "ENST00000297056.11",
"protein_id": "ENSP00000297056.6",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 672,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139179.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297056.11"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1987A>T",
"hgvs_p": "p.Ser663Cys",
"transcript": "ENST00000878465.1",
"protein_id": "ENSP00000548524.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 708,
"cds_start": 1987,
"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": "ENST00000878465.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1873A>T",
"hgvs_p": "p.Ser625Cys",
"transcript": "ENST00000878464.1",
"protein_id": "ENSP00000548523.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 670,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878464.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1843A>T",
"hgvs_p": "p.Ser615Cys",
"transcript": "ENST00000878463.1",
"protein_id": "ENSP00000548522.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 660,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878463.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1801A>T",
"hgvs_p": "p.Ser601Cys",
"transcript": "ENST00000878457.1",
"protein_id": "ENSP00000548516.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 646,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878457.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1795A>T",
"hgvs_p": "p.Ser599Cys",
"transcript": "ENST00000878456.1",
"protein_id": "ENSP00000548515.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 644,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878456.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1756A>T",
"hgvs_p": "p.Ser586Cys",
"transcript": "ENST00000436575.5",
"protein_id": "ENSP00000404785.1",
"transcript_support_level": 2,
"aa_start": 586,
"aa_end": null,
"aa_length": 631,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436575.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1756A>T",
"hgvs_p": "p.Ser586Cys",
"transcript": "ENST00000878461.1",
"protein_id": "ENSP00000548520.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 631,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878461.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1717A>T",
"hgvs_p": "p.Ser573Cys",
"transcript": "ENST00000878459.1",
"protein_id": "ENSP00000548518.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 618,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878459.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1675A>T",
"hgvs_p": "p.Ser559Cys",
"transcript": "ENST00000878462.1",
"protein_id": "ENSP00000548521.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 604,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878462.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1624A>T",
"hgvs_p": "p.Ser542Cys",
"transcript": "ENST00000878458.1",
"protein_id": "ENSP00000548517.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 587,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878458.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1615A>T",
"hgvs_p": "p.Ser539Cys",
"transcript": "ENST00000930345.1",
"protein_id": "ENSP00000600404.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 584,
"cds_start": 1615,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930345.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1585A>T",
"hgvs_p": "p.Ser529Cys",
"transcript": "ENST00000878460.1",
"protein_id": "ENSP00000548519.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 574,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878460.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1579A>T",
"hgvs_p": "p.Ser527Cys",
"transcript": "ENST00000947925.1",
"protein_id": "ENSP00000617984.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 572,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947925.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1540A>T",
"hgvs_p": "p.Ser514Cys",
"transcript": "ENST00000930344.1",
"protein_id": "ENSP00000600403.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 559,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930344.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1492A>T",
"hgvs_p": "p.Ser498Cys",
"transcript": "NM_001142936.2",
"protein_id": "NP_001136408.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 543,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142936.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1492A>T",
"hgvs_p": "p.Ser498Cys",
"transcript": "ENST00000425398.6",
"protein_id": "ENSP00000391171.2",
"transcript_support_level": 2,
"aa_start": 498,
"aa_end": null,
"aa_length": 543,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425398.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1462A>T",
"hgvs_p": "p.Ser488Cys",
"transcript": "ENST00000930343.1",
"protein_id": "ENSP00000600402.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 533,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930343.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1444A>T",
"hgvs_p": "p.Ser482Cys",
"transcript": "ENST00000930346.1",
"protein_id": "ENSP00000600405.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 527,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930346.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1420A>T",
"hgvs_p": "p.Ser474Cys",
"transcript": "ENST00000947926.1",
"protein_id": "ENSP00000617985.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 519,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947926.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "c.1123A>T",
"hgvs_p": "p.Ser375Cys",
"transcript": "ENST00000930342.1",
"protein_id": "ENSP00000600401.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 420,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "n.1738A>T",
"hgvs_p": null,
"transcript": "ENST00000462934.5",
"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": "ENST00000462934.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"hgvs_c": "n.1531A>T",
"hgvs_p": null,
"transcript": "ENST00000482149.5",
"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": "ENST00000482149.5"
}
],
"gene_symbol": "DAGLB",
"gene_hgnc_id": 28923,
"dbsnp": "rs199735881",
"frequency_reference_population": 0.000009293496,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000889301,
"gnomad_genomes_af": 0.0000131397,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2146003544330597,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.38999998569488525,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.1086,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.773,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.39,
"spliceai_max_prediction": "Uncertain_significance",
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_139179.4",
"gene_symbol": "DAGLB",
"hgnc_id": 28923,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1879A>T",
"hgvs_p": "p.Ser627Cys"
}
],
"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
}