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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: 21-46195752-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46195752&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46195752,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002340.6",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1741T>A",
"hgvs_p": "p.Trp581Arg",
"transcript": "NM_002340.6",
"protein_id": "NP_002331.3",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 732,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397728.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002340.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1741T>A",
"hgvs_p": "p.Trp581Arg",
"transcript": "ENST00000397728.8",
"protein_id": "ENSP00000380837.2",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 732,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002340.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397728.8"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1741T>A",
"hgvs_p": "p.Trp581Arg",
"transcript": "ENST00000356396.8",
"protein_id": "ENSP00000348762.3",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 732,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356396.8"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1501T>A",
"hgvs_p": "p.Trp501Arg",
"transcript": "ENST00000457828.6",
"protein_id": "ENSP00000409191.2",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 652,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457828.6"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1771T>A",
"hgvs_p": "p.Trp591Arg",
"transcript": "ENST00000908051.1",
"protein_id": "ENSP00000578110.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 742,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908051.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1741T>A",
"hgvs_p": "p.Trp581Arg",
"transcript": "NM_001001438.3",
"protein_id": "NP_001001438.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 732,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001438.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1738T>A",
"hgvs_p": "p.Trp580Arg",
"transcript": "ENST00000957230.1",
"protein_id": "ENSP00000627289.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 731,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957230.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1738T>A",
"hgvs_p": "p.Trp580Arg",
"transcript": "ENST00000957231.1",
"protein_id": "ENSP00000627290.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 731,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957231.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1738T>A",
"hgvs_p": "p.Trp580Arg",
"transcript": "ENST00000957233.1",
"protein_id": "ENSP00000627292.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 731,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957233.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1708T>A",
"hgvs_p": "p.Trp570Arg",
"transcript": "NM_001145436.2",
"protein_id": "NP_001138908.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 721,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145436.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1708T>A",
"hgvs_p": "p.Trp570Arg",
"transcript": "ENST00000522411.5",
"protein_id": "ENSP00000429133.1",
"transcript_support_level": 2,
"aa_start": 570,
"aa_end": null,
"aa_length": 721,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522411.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1690T>A",
"hgvs_p": "p.Trp564Arg",
"transcript": "ENST00000957229.1",
"protein_id": "ENSP00000627288.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 715,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957229.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1684T>A",
"hgvs_p": "p.Trp562Arg",
"transcript": "ENST00000908053.1",
"protein_id": "ENSP00000578112.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 713,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908053.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1675T>A",
"hgvs_p": "p.Trp559Arg",
"transcript": "ENST00000908050.1",
"protein_id": "ENSP00000578109.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 710,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908050.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1672T>A",
"hgvs_p": "p.Trp558Arg",
"transcript": "ENST00000937739.1",
"protein_id": "ENSP00000607798.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 709,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937739.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1642T>A",
"hgvs_p": "p.Trp548Arg",
"transcript": "ENST00000908054.1",
"protein_id": "ENSP00000578113.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 699,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908054.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1636T>A",
"hgvs_p": "p.Trp546Arg",
"transcript": "ENST00000937740.1",
"protein_id": "ENSP00000607799.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 697,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937740.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1741T>A",
"hgvs_p": "p.Trp581Arg",
"transcript": "ENST00000957232.1",
"protein_id": "ENSP00000627291.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 675,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957232.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1510T>A",
"hgvs_p": "p.Trp504Arg",
"transcript": "ENST00000908052.1",
"protein_id": "ENSP00000578111.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 655,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908052.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1675T>A",
"hgvs_p": "p.Trp559Arg",
"transcript": "ENST00000908055.1",
"protein_id": "ENSP00000578114.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 653,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908055.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1501T>A",
"hgvs_p": "p.Trp501Arg",
"transcript": "NM_001145437.2",
"protein_id": "NP_001138909.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 652,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145437.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1444T>A",
"hgvs_p": "p.Trp482Arg",
"transcript": "ENST00000937737.1",
"protein_id": "ENSP00000607796.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 633,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"intron_variant"
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"transcript": "ENST00000937738.1",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "LSS",
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"hgvs_c": "n.175T>A",
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"transcript": "ENST00000484808.1",
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"biotype": "pseudogene",
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}
],
"gene_symbol": "LSS",
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"dbsnp": "rs864622780",
"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": 0.9854190349578857,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.697,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.844,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PS1",
"PM2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_002340.6",
"gene_symbol": "LSS",
"hgnc_id": 6708,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1741T>A",
"hgvs_p": "p.Trp581Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}