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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: 21-46194555-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46194555&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46194555,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002340.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1924T>G",
"hgvs_p": "p.Leu642Val",
"transcript": "NM_002340.6",
"protein_id": "NP_002331.3",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 732,
"cds_start": 1924,
"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": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1924T>G",
"hgvs_p": "p.Leu642Val",
"transcript": "ENST00000397728.8",
"protein_id": "ENSP00000380837.2",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 732,
"cds_start": 1924,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1924T>G",
"hgvs_p": "p.Leu642Val",
"transcript": "ENST00000356396.8",
"protein_id": "ENSP00000348762.3",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 732,
"cds_start": 1924,
"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": "L",
"aa_alt": "V",
"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.1684T>G",
"hgvs_p": "p.Leu562Val",
"transcript": "ENST00000457828.6",
"protein_id": "ENSP00000409191.2",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 652,
"cds_start": 1684,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1954T>G",
"hgvs_p": "p.Leu652Val",
"transcript": "ENST00000908051.1",
"protein_id": "ENSP00000578110.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 742,
"cds_start": 1954,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1924T>G",
"hgvs_p": "p.Leu642Val",
"transcript": "NM_001001438.3",
"protein_id": "NP_001001438.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 732,
"cds_start": 1924,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1921T>G",
"hgvs_p": "p.Leu641Val",
"transcript": "ENST00000957230.1",
"protein_id": "ENSP00000627289.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 731,
"cds_start": 1921,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1921T>G",
"hgvs_p": "p.Leu641Val",
"transcript": "ENST00000957231.1",
"protein_id": "ENSP00000627290.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 731,
"cds_start": 1921,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1921T>G",
"hgvs_p": "p.Leu641Val",
"transcript": "ENST00000957233.1",
"protein_id": "ENSP00000627292.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 731,
"cds_start": 1921,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1891T>G",
"hgvs_p": "p.Leu631Val",
"transcript": "NM_001145436.2",
"protein_id": "NP_001138908.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 721,
"cds_start": 1891,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1891T>G",
"hgvs_p": "p.Leu631Val",
"transcript": "ENST00000522411.5",
"protein_id": "ENSP00000429133.1",
"transcript_support_level": 2,
"aa_start": 631,
"aa_end": null,
"aa_length": 721,
"cds_start": 1891,
"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": "L",
"aa_alt": "V",
"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.1873T>G",
"hgvs_p": "p.Leu625Val",
"transcript": "ENST00000957229.1",
"protein_id": "ENSP00000627288.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 715,
"cds_start": 1873,
"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": "L",
"aa_alt": "V",
"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.1867T>G",
"hgvs_p": "p.Leu623Val",
"transcript": "ENST00000908053.1",
"protein_id": "ENSP00000578112.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 713,
"cds_start": 1867,
"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": "L",
"aa_alt": "V",
"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.1858T>G",
"hgvs_p": "p.Leu620Val",
"transcript": "ENST00000908050.1",
"protein_id": "ENSP00000578109.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 710,
"cds_start": 1858,
"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": "L",
"aa_alt": "V",
"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.1855T>G",
"hgvs_p": "p.Leu619Val",
"transcript": "ENST00000937739.1",
"protein_id": "ENSP00000607798.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 709,
"cds_start": 1855,
"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": "L",
"aa_alt": "V",
"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.1825T>G",
"hgvs_p": "p.Leu609Val",
"transcript": "ENST00000908054.1",
"protein_id": "ENSP00000578113.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 699,
"cds_start": 1825,
"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": "L",
"aa_alt": "V",
"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.1819T>G",
"hgvs_p": "p.Leu607Val",
"transcript": "ENST00000937740.1",
"protein_id": "ENSP00000607799.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 697,
"cds_start": 1819,
"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": "L",
"aa_alt": "V",
"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.1693T>G",
"hgvs_p": "p.Leu565Val",
"transcript": "ENST00000908052.1",
"protein_id": "ENSP00000578111.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 655,
"cds_start": 1693,
"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": "L",
"aa_alt": "V",
"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.1684T>G",
"hgvs_p": "p.Leu562Val",
"transcript": "NM_001145437.2",
"protein_id": "NP_001138909.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 652,
"cds_start": 1684,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1627T>G",
"hgvs_p": "p.Leu543Val",
"transcript": "ENST00000937737.1",
"protein_id": "ENSP00000607796.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 633,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937737.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.25T>G",
"hgvs_p": "p.Leu9Val",
"transcript": "ENST00000419093.5",
"protein_id": "ENSP00000410678.1",
"transcript_support_level": 3,
"aa_start": 9,
"aa_end": null,
"aa_length": 135,
"cds_start": 25,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419093.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1817+1121T>G",
"hgvs_p": null,
"transcript": "ENST00000957232.1",
"protein_id": "ENSP00000627291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1751+1121T>G",
"hgvs_p": null,
"transcript": "ENST00000908055.1",
"protein_id": "ENSP00000578114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"hgvs_c": "c.1671-2596T>G",
"hgvs_p": null,
"transcript": "ENST00000937738.1",
"protein_id": "ENSP00000607797.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": null,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937738.1"
}
],
"gene_symbol": "LSS",
"gene_hgnc_id": 6708,
"dbsnp": "rs2254524",
"frequency_reference_population": 0.6631573,
"hom_count_reference_population": 358164,
"allele_count_reference_population": 1069938,
"gnomad_exomes_af": 0.657411,
"gnomad_genomes_af": 0.718314,
"gnomad_exomes_ac": 960592,
"gnomad_genomes_ac": 109346,
"gnomad_exomes_homalt": 317969,
"gnomad_genomes_homalt": 40195,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.926981086508022e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0465,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.503,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002340.6",
"gene_symbol": "LSS",
"hgnc_id": 6708,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1924T>G",
"hgvs_p": "p.Leu642Val"
}
],
"clinvar_disease": "Alopecia-intellectual disability syndrome 4,Cataract 44,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not provided|Cataract 44|Alopecia-intellectual disability syndrome 4",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}