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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: 8-143559343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143559343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143559343,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024736.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "NM_024736.7",
"protein_id": "NP_079012.3",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262580.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024736.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000262580.9",
"protein_id": "ENSP00000262580.4",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024736.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262580.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ser51Leu",
"transcript": "ENST00000533063.5",
"protein_id": "ENSP00000433958.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 532,
"cds_start": 152,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533063.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "NM_001166237.1",
"protein_id": "NP_001159709.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166237.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000526406.5",
"protein_id": "ENSP00000433209.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526406.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000866629.1",
"protein_id": "ENSP00000536688.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866629.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000866630.1",
"protein_id": "ENSP00000536689.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866630.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000866631.1",
"protein_id": "ENSP00000536690.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866631.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000866632.1",
"protein_id": "ENSP00000536691.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866632.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000866633.1",
"protein_id": "ENSP00000536692.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866633.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000917301.1",
"protein_id": "ENSP00000587360.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917301.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000917302.1",
"protein_id": "ENSP00000587361.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917302.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000967708.1",
"protein_id": "ENSP00000637767.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967708.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000967709.1",
"protein_id": "ENSP00000637768.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967709.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000967710.1",
"protein_id": "ENSP00000637769.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967710.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000967711.1",
"protein_id": "ENSP00000637770.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 484,
"cds_start": 8,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967711.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000917300.1",
"protein_id": "ENSP00000587359.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 329,
"cds_start": 8,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917300.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ser19Leu",
"transcript": "ENST00000534018.5",
"protein_id": "ENSP00000436684.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 276,
"cds_start": 56,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534018.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000533348.5",
"protein_id": "ENSP00000434386.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 163,
"cds_start": 8,
"cds_end": null,
"cds_length": 494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533348.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000533888.1",
"protein_id": "ENSP00000437065.1",
"transcript_support_level": 4,
"aa_start": 3,
"aa_end": null,
"aa_length": 152,
"cds_start": 8,
"cds_end": null,
"cds_length": 461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533888.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000525721.1",
"protein_id": "ENSP00000434452.1",
"transcript_support_level": 4,
"aa_start": 3,
"aa_end": null,
"aa_length": 113,
"cds_start": 8,
"cds_end": null,
"cds_length": 343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525721.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu",
"transcript": "ENST00000529854.1",
"protein_id": "ENSP00000432351.1",
"transcript_support_level": 4,
"aa_start": 3,
"aa_end": null,
"aa_length": 47,
"cds_start": 8,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529854.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "n.655C>T",
"hgvs_p": null,
"transcript": "ENST00000524846.5",
"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": "ENST00000524846.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"hgvs_c": "n.126C>T",
"hgvs_p": null,
"transcript": "ENST00000531184.5",
"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": "ENST00000531184.5"
}
],
"gene_symbol": "GSDMD",
"gene_hgnc_id": 25697,
"dbsnp": "rs770774804",
"frequency_reference_population": 0.0000664041,
"hom_count_reference_population": 0,
"allele_count_reference_population": 90,
"gnomad_exomes_af": 0.0000724645,
"gnomad_genomes_af": 0.0000141894,
"gnomad_exomes_ac": 88,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4726458489894867,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.2051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.803,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024736.7",
"gene_symbol": "GSDMD",
"hgnc_id": 25697,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ser3Leu"
}
],
"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
}