← Back to variant description
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: 11-49200333-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=49200333&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 49200333,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000256999.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "NM_004476.3",
"protein_id": "NP_004467.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 750,
"cds_start": 333,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": "ENST00000256999.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000256999.7",
"protein_id": "ENSP00000256999.2",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 750,
"cds_start": 333,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": "NM_004476.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "ENST00000340334.11",
"protein_id": "ENSP00000344131.7",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 735,
"cds_start": 288,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "ENST00000356696.7",
"protein_id": "ENSP00000349129.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 719,
"cds_start": 333,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "ENST00000533034.1",
"protein_id": "ENSP00000431463.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 704,
"cds_start": 288,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.348A>T",
"hgvs_p": null,
"transcript": "ENST00000529646.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001193471.3",
"protein_id": "NP_001180400.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 735,
"cds_start": 288,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala",
"transcript": "NM_001014986.3",
"protein_id": "NP_001014986.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 719,
"cds_start": 333,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "NM_001193472.3",
"protein_id": "NP_001180401.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 704,
"cds_start": 288,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "NM_001351236.2",
"protein_id": "NP_001338165.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 662,
"cds_start": 162,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "ENST00000529117.1",
"protein_id": "ENSP00000431577.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 63,
"cds_start": 162,
"cds_end": null,
"cds_length": 194,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.498A>T",
"hgvs_p": "p.Ala166Ala",
"transcript": "XM_017017432.2",
"protein_id": "XP_016872921.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 805,
"cds_start": 498,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.498A>T",
"hgvs_p": "p.Ala166Ala",
"transcript": "XM_017017433.3",
"protein_id": "XP_016872922.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 774,
"cds_start": 498,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.288A>T",
"hgvs_p": "p.Ala96Ala",
"transcript": "XM_017017434.2",
"protein_id": "XP_016872923.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 735,
"cds_start": 288,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "XM_047426678.1",
"protein_id": "XP_047282634.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 693,
"cds_start": 162,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "XM_047426679.1",
"protein_id": "XP_047282635.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 693,
"cds_start": 162,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "XM_047426680.1",
"protein_id": "XP_047282636.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 693,
"cds_start": 162,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "XM_047426681.1",
"protein_id": "XP_047282637.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 662,
"cds_start": 162,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.162A>T",
"hgvs_p": "p.Ala54Ala",
"transcript": "XM_047426682.1",
"protein_id": "XP_047282638.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 662,
"cds_start": 162,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.498A>T",
"hgvs_p": "p.Ala166Ala",
"transcript": "XM_011519958.4",
"protein_id": "XP_011518260.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 543,
"cds_start": 498,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.*245A>T",
"hgvs_p": null,
"transcript": "ENST00000533510.5",
"protein_id": "ENSP00000436569.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.*245A>T",
"hgvs_p": null,
"transcript": "ENST00000533510.5",
"protein_id": "ENSP00000436569.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "c.-327+5734A>T",
"hgvs_p": null,
"transcript": "NM_001193473.3",
"protein_id": "NP_001180402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.224+5734A>T",
"hgvs_p": null,
"transcript": "ENST00000525826.5",
"protein_id": "ENSP00000434928.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"hgvs_c": "n.*324A>T",
"hgvs_p": null,
"transcript": "ENST00000529648.1",
"protein_id": "ENSP00000431263.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOLH1",
"gene_hgnc_id": 3788,
"dbsnp": "rs202680",
"frequency_reference_population": 0.30614862,
"hom_count_reference_population": 79396,
"allele_count_reference_population": 492347,
"gnomad_exomes_af": 0.300084,
"gnomad_genomes_af": 0.364263,
"gnomad_exomes_ac": 436987,
"gnomad_genomes_ac": 55360,
"gnomad_exomes_homalt": 68091,
"gnomad_genomes_homalt": 11305,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.414,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000256999.7",
"gene_symbol": "FOLH1",
"hgnc_id": 3788,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.333A>T",
"hgvs_p": "p.Ala111Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}