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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: 3-94050868-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=94050868&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 94050868,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394222.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1186C>G",
"hgvs_p": "p.Pro396Ala",
"transcript": "NM_001174150.2",
"protein_id": "NP_001167621.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 428,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": "ENST00000394222.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1186C>G",
"hgvs_p": "p.Pro396Ala",
"transcript": "ENST00000394222.8",
"protein_id": "ENSP00000377769.3",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 428,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": "NM_001174150.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1186C>G",
"hgvs_p": "p.Pro396Ala",
"transcript": "ENST00000471138.5",
"protein_id": "ENSP00000420780.1",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 428,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Pro293Ala",
"transcript": "ENST00000535334.5",
"protein_id": "ENSP00000445145.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 325,
"cds_start": 877,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.Pro289Ala",
"transcript": "ENST00000303097.11",
"protein_id": "ENSP00000306225.7",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 321,
"cds_start": 865,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*1038C>G",
"hgvs_p": null,
"transcript": "ENST00000335438.7",
"protein_id": "ENSP00000335400.3",
"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": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*659C>G",
"hgvs_p": null,
"transcript": "ENST00000460371.5",
"protein_id": "ENSP00000417263.1",
"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": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*1038C>G",
"hgvs_p": null,
"transcript": "ENST00000335438.7",
"protein_id": "ENSP00000335400.3",
"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": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*659C>G",
"hgvs_p": null,
"transcript": "ENST00000460371.5",
"protein_id": "ENSP00000417263.1",
"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": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1273C>G",
"hgvs_p": "p.Pro425Ala",
"transcript": "ENST00000681380.1",
"protein_id": "ENSP00000505402.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 457,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1186C>G",
"hgvs_p": "p.Pro396Ala",
"transcript": "NM_182896.3",
"protein_id": "NP_878899.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 428,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1141C>G",
"hgvs_p": "p.Pro381Ala",
"transcript": "NM_001321328.2",
"protein_id": "NP_001308257.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 413,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1135C>G",
"hgvs_p": "p.Pro379Ala",
"transcript": "ENST00000679872.1",
"protein_id": "ENSP00000505607.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 411,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Pro371Ala",
"transcript": "ENST00000679404.1",
"protein_id": "ENSP00000505252.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 403,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 3787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Pro371Ala",
"transcript": "ENST00000681655.1",
"protein_id": "ENSP00000505036.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 403,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Pro293Ala",
"transcript": "NM_001174151.2",
"protein_id": "NP_001167622.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 325,
"cds_start": 877,
"cds_end": null,
"cds_length": 978,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.Pro289Ala",
"transcript": "NM_144996.4",
"protein_id": "NP_659433.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 321,
"cds_start": 865,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.814C>G",
"hgvs_p": "p.Pro272Ala",
"transcript": "ENST00000679666.1",
"protein_id": "ENSP00000506469.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.349C>G",
"hgvs_p": "p.Pro117Ala",
"transcript": "ENST00000679607.1",
"protein_id": "ENSP00000505148.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 149,
"cds_start": 349,
"cds_end": null,
"cds_length": 450,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.130C>G",
"hgvs_p": "p.Pro44Ala",
"transcript": "ENST00000679657.1",
"protein_id": "ENSP00000505494.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 76,
"cds_start": 130,
"cds_end": null,
"cds_length": 231,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Pro384Ala",
"transcript": "XM_011512532.3",
"protein_id": "XP_011510834.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 416,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1150C>G",
"hgvs_p": "p.Pro384Ala",
"transcript": "XM_011512533.3",
"protein_id": "XP_011510835.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 416,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.1141C>G",
"hgvs_p": "p.Pro381Ala",
"transcript": "XM_006713532.4",
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"protein_id": "ENSP00000505366.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 298,
"cds_start": -4,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1434,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DHFR2",
"gene_hgnc_id": 27309,
"hgvs_c": "n.290-2690G>C",
"hgvs_p": null,
"transcript": "ENST00000481631.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"dbsnp": "rs11554412",
"frequency_reference_population": 0.007164663,
"hom_count_reference_population": 50,
"allele_count_reference_population": 11556,
"gnomad_exomes_af": 0.00736896,
"gnomad_genomes_af": 0.00520388,
"gnomad_exomes_ac": 10764,
"gnomad_genomes_ac": 792,
"gnomad_exomes_homalt": 42,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008797377347946167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.1576,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.164,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394222.8",
"gene_symbol": "ARL13B",
"hgnc_id": 25419,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1186C>G",
"hgvs_p": "p.Pro396Ala"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000481631.1",
"gene_symbol": "DHFR2",
"hgnc_id": 27309,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.290-2690G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Joubert syndrome 1,Joubert syndrome 8,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:3",
"phenotype_combined": "not specified|not provided|Joubert syndrome 1|Joubert syndrome 8",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}