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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: 7-6409860-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6409860&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6409860,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_139179.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"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.1996G>T",
"hgvs_p": "p.Val666Phe",
"transcript": "NM_139179.4",
"protein_id": "NP_631918.3",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 672,
"cds_start": 1996,
"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": "V",
"aa_alt": "F",
"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.1996G>T",
"hgvs_p": "p.Val666Phe",
"transcript": "ENST00000297056.11",
"protein_id": "ENSP00000297056.6",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 672,
"cds_start": 1996,
"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": "V",
"aa_alt": "F",
"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.2104G>T",
"hgvs_p": "p.Val702Phe",
"transcript": "ENST00000878465.1",
"protein_id": "ENSP00000548524.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 708,
"cds_start": 2104,
"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": "V",
"aa_alt": "F",
"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.1990G>T",
"hgvs_p": "p.Val664Phe",
"transcript": "ENST00000878464.1",
"protein_id": "ENSP00000548523.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 670,
"cds_start": 1990,
"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": "V",
"aa_alt": "F",
"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.1960G>T",
"hgvs_p": "p.Val654Phe",
"transcript": "ENST00000878463.1",
"protein_id": "ENSP00000548522.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 660,
"cds_start": 1960,
"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": "V",
"aa_alt": "F",
"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.1918G>T",
"hgvs_p": "p.Val640Phe",
"transcript": "ENST00000878457.1",
"protein_id": "ENSP00000548516.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 646,
"cds_start": 1918,
"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": "V",
"aa_alt": "F",
"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.1912G>T",
"hgvs_p": "p.Val638Phe",
"transcript": "ENST00000878456.1",
"protein_id": "ENSP00000548515.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 644,
"cds_start": 1912,
"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": "V",
"aa_alt": "F",
"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.1873G>T",
"hgvs_p": "p.Val625Phe",
"transcript": "ENST00000436575.5",
"protein_id": "ENSP00000404785.1",
"transcript_support_level": 2,
"aa_start": 625,
"aa_end": null,
"aa_length": 631,
"cds_start": 1873,
"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": "V",
"aa_alt": "F",
"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.1873G>T",
"hgvs_p": "p.Val625Phe",
"transcript": "ENST00000878461.1",
"protein_id": "ENSP00000548520.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 631,
"cds_start": 1873,
"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": "V",
"aa_alt": "F",
"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.1834G>T",
"hgvs_p": "p.Val612Phe",
"transcript": "ENST00000878459.1",
"protein_id": "ENSP00000548518.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 618,
"cds_start": 1834,
"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": "V",
"aa_alt": "F",
"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.1792G>T",
"hgvs_p": "p.Val598Phe",
"transcript": "ENST00000878462.1",
"protein_id": "ENSP00000548521.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 604,
"cds_start": 1792,
"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": "V",
"aa_alt": "F",
"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.1741G>T",
"hgvs_p": "p.Val581Phe",
"transcript": "ENST00000878458.1",
"protein_id": "ENSP00000548517.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 587,
"cds_start": 1741,
"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": "V",
"aa_alt": "F",
"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.1732G>T",
"hgvs_p": "p.Val578Phe",
"transcript": "ENST00000930345.1",
"protein_id": "ENSP00000600404.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 584,
"cds_start": 1732,
"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": "V",
"aa_alt": "F",
"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.1702G>T",
"hgvs_p": "p.Val568Phe",
"transcript": "ENST00000878460.1",
"protein_id": "ENSP00000548519.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 574,
"cds_start": 1702,
"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": "V",
"aa_alt": "F",
"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.1696G>T",
"hgvs_p": "p.Val566Phe",
"transcript": "ENST00000947925.1",
"protein_id": "ENSP00000617984.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 572,
"cds_start": 1696,
"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": "V",
"aa_alt": "F",
"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.1657G>T",
"hgvs_p": "p.Val553Phe",
"transcript": "ENST00000930344.1",
"protein_id": "ENSP00000600403.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 559,
"cds_start": 1657,
"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": "V",
"aa_alt": "F",
"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.1609G>T",
"hgvs_p": "p.Val537Phe",
"transcript": "NM_001142936.2",
"protein_id": "NP_001136408.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 543,
"cds_start": 1609,
"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": "V",
"aa_alt": "F",
"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.1609G>T",
"hgvs_p": "p.Val537Phe",
"transcript": "ENST00000425398.6",
"protein_id": "ENSP00000391171.2",
"transcript_support_level": 2,
"aa_start": 537,
"aa_end": null,
"aa_length": 543,
"cds_start": 1609,
"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": "V",
"aa_alt": "F",
"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.1579G>T",
"hgvs_p": "p.Val527Phe",
"transcript": "ENST00000930343.1",
"protein_id": "ENSP00000600402.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 533,
"cds_start": 1579,
"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": "V",
"aa_alt": "F",
"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.1561G>T",
"hgvs_p": "p.Val521Phe",
"transcript": "ENST00000930346.1",
"protein_id": "ENSP00000600405.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 527,
"cds_start": 1561,
"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": "V",
"aa_alt": "F",
"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.1537G>T",
"hgvs_p": "p.Val513Phe",
"transcript": "ENST00000947926.1",
"protein_id": "ENSP00000617985.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 519,
"cds_start": 1537,
"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": "V",
"aa_alt": "F",
"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.1240G>T",
"hgvs_p": "p.Val414Phe",
"transcript": "ENST00000930342.1",
"protein_id": "ENSP00000600401.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 420,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
"aa_ref": null,
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"non_coding_transcript_exon_variant"
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"biotype": "retained_intron",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 6,
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"gene_symbol": "DAGLB",
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"transcript": "ENST00000482149.5",
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"biotype": "retained_intron",
"feature": "ENST00000482149.5"
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],
"gene_symbol": "DAGLB",
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"dbsnp": "rs199951557",
"frequency_reference_population": 6.84149e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84149e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06104740500450134,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.398,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_139179.4",
"gene_symbol": "DAGLB",
"hgnc_id": 28923,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1996G>T",
"hgvs_p": "p.Val666Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}