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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: 2-74211279-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74211279&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74211279,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006636.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ile251Val",
"transcript": "NM_006636.4",
"protein_id": "NP_006627.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 350,
"cds_start": 751,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394053.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006636.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ile251Val",
"transcript": "ENST00000394053.7",
"protein_id": "ENSP00000377617.2",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 350,
"cds_start": 751,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006636.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394053.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.673A>G",
"hgvs_p": "p.Ile225Val",
"transcript": "ENST00000677997.1",
"protein_id": "ENSP00000503074.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 324,
"cds_start": 673,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677997.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Ile210Val",
"transcript": "ENST00000409601.1",
"protein_id": "ENSP00000386542.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 267,
"cds_start": 628,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409601.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ile149Val",
"transcript": "NM_001410192.1",
"protein_id": "NP_001397121.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410192.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ile149Val",
"transcript": "ENST00000677170.1",
"protein_id": "ENSP00000503486.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677170.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ile149Val",
"transcript": "ENST00000678623.1",
"protein_id": "ENSP00000504392.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678623.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ile149Val",
"transcript": "ENST00000678684.1",
"protein_id": "ENSP00000504687.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678684.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ile149Val",
"transcript": "ENST00000678731.1",
"protein_id": "ENSP00000503927.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678731.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ile149Val",
"transcript": "ENST00000679055.1",
"protein_id": "ENSP00000503701.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679055.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.367A>G",
"hgvs_p": "p.Ile123Val",
"transcript": "ENST00000409804.5",
"protein_id": "ENSP00000386536.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 222,
"cds_start": 367,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409804.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val",
"transcript": "ENST00000678340.1",
"protein_id": "ENSP00000503933.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 212,
"cds_start": 337,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678340.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ile149Val",
"transcript": "ENST00000462026.2",
"protein_id": "ENSP00000503386.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 202,
"cds_start": 445,
"cds_end": null,
"cds_length": 610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462026.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "c.445A>G",
"hgvs_p": "p.Ile149Val",
"transcript": "XM_006711924.3",
"protein_id": "XP_006711987.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711924.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.*452A>G",
"hgvs_p": null,
"transcript": "ENST00000470592.5",
"protein_id": "ENSP00000419067.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000470592.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.*732A>G",
"hgvs_p": null,
"transcript": "ENST00000489041.2",
"protein_id": "ENSP00000419550.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000489041.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.1112A>G",
"hgvs_p": null,
"transcript": "ENST00000677299.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000677299.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.*332A>G",
"hgvs_p": null,
"transcript": "ENST00000677377.1",
"protein_id": "ENSP00000502903.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000677377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.*839A>G",
"hgvs_p": null,
"transcript": "ENST00000678228.1",
"protein_id": "ENSP00000503299.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000678228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.5102A>G",
"hgvs_p": null,
"transcript": "ENST00000678955.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000678955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.*452A>G",
"hgvs_p": null,
"transcript": "ENST00000470592.5",
"protein_id": "ENSP00000419067.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000470592.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.*732A>G",
"hgvs_p": null,
"transcript": "ENST00000489041.2",
"protein_id": "ENSP00000419550.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000489041.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.*332A>G",
"hgvs_p": null,
"transcript": "ENST00000677377.1",
"protein_id": "ENSP00000502903.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000677377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"hgvs_c": "n.*839A>G",
"hgvs_p": null,
"transcript": "ENST00000678228.1",
"protein_id": "ENSP00000503299.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000678228.1"
}
],
"gene_symbol": "MTHFD2",
"gene_hgnc_id": 7434,
"dbsnp": "rs183389698",
"frequency_reference_population": 0.00008750503,
"hom_count_reference_population": 0,
"allele_count_reference_population": 140,
"gnomad_exomes_af": 0.0000469753,
"gnomad_genomes_af": 0.000472633,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 72,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012758344411849976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.0998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006636.4",
"gene_symbol": "MTHFD2",
"hgnc_id": 7434,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ile251Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}