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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: 17-58218619-CTGGCAGT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58218619&ref=CTGGCAGT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58218619,
"ref": "CTGGCAGT",
"alt": "C",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_001321269.2",
"consequences": [
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "NM_017777.4",
"protein_id": "NP_060247.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 559,
"cds_start": 184,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393119.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017777.4"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000393119.7",
"protein_id": "ENSP00000376827.2",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 559,
"cds_start": 184,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017777.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393119.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.-246_-240delACTGCCA",
"hgvs_p": null,
"transcript": "ENST00000537529.7",
"protein_id": "ENSP00000442096.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537529.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.-246_-240delACTGCCA",
"hgvs_p": null,
"transcript": "ENST00000537529.7",
"protein_id": "ENSP00000442096.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537529.7"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000966002.1",
"protein_id": "ENSP00000636061.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 570,
"cds_start": 184,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966002.1"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "NM_001321269.2",
"protein_id": "NP_001308198.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 561,
"cds_start": 184,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321269.2"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000678463.1",
"protein_id": "ENSP00000502984.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 561,
"cds_start": 184,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678463.1"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000872459.1",
"protein_id": "ENSP00000542518.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 551,
"cds_start": 184,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872459.1"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000872460.1",
"protein_id": "ENSP00000542519.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 540,
"cds_start": 184,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872460.1"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000676787.1",
"protein_id": "ENSP00000503999.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 516,
"cds_start": 184,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676787.1"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000585134.2",
"protein_id": "ENSP00000463826.2",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 470,
"cds_start": 184,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585134.2"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "NM_001330397.2",
"protein_id": "NP_001317326.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 456,
"cds_start": 184,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330397.2"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000313863.11",
"protein_id": "ENSP00000316631.6",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 456,
"cds_start": 184,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313863.11"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "NM_001411113.1",
"protein_id": "NP_001398042.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 432,
"cds_start": 184,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411113.1"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000580127.6",
"protein_id": "ENSP00000462423.2",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 432,
"cds_start": 184,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580127.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.-328_-322delACTGCCA",
"hgvs_p": null,
"transcript": "NM_001321268.2",
"protein_id": "NP_001308197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321268.2"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000581761.6",
"protein_id": "ENSP00000462129.2",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 343,
"cds_start": 184,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581761.6"
},
{
"aa_ref": "TAS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "ENST00000581180.2",
"protein_id": "ENSP00000502288.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 154,
"cds_start": 184,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581180.2"
},
{
"aa_ref": "TAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "XM_011524957.3",
"protein_id": "XP_011523259.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 564,
"cds_start": 184,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524957.3"
},
{
"aa_ref": "TAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "XM_011524958.3",
"protein_id": "XP_011523260.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 562,
"cds_start": 184,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524958.3"
},
{
"aa_ref": "TAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs",
"transcript": "XM_011524960.3",
"protein_id": "XP_011523262.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 435,
"cds_start": 184,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524960.3"
},
{
"aa_ref": "TAI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679081.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"hgvs_c": "n.80+525_80+531delACTGCCA",
"hgvs_p": null,
"transcript": "ENST00000578789.1",
"protein_id": "ENSP00000462411.1",
"transcript_support_level": 4,
"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": "ENST00000578789.1"
}
],
"gene_symbol": "MKS1",
"gene_hgnc_id": 7121,
"dbsnp": "rs386834046",
"frequency_reference_population": 0.0000027682504,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000276825,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.801,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001321269.2",
"gene_symbol": "MKS1",
"hgnc_id": 7121,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.184_190delACTGCCA",
"hgvs_p": "p.Thr62fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000582328.5",
"gene_symbol": "LPO",
"hgnc_id": 6678,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-482_-476delAGTTGGC",
"hgvs_p": null
}
],
"clinvar_disease": " type 1,Bardet-Biedl syndrome 13,Joubert syndrome,Joubert syndrome 28,MKS1-related disorder,Meckel syndrome,Meckel-Gruber syndrome",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Meckel syndrome, type 1|Joubert syndrome 28;Bardet-Biedl syndrome 13;Meckel syndrome, type 1|Joubert syndrome;Meckel-Gruber syndrome|Bardet-Biedl syndrome 13|MKS1-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}