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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: 6-135290508-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135290508&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 135290508,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265602.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "NM_001134831.2",
"protein_id": "NP_001128303.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3862,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": "ENST00000265602.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "ENST00000265602.11",
"protein_id": "ENSP00000265602.6",
"transcript_support_level": 1,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3862,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": "NM_001134831.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "ENST00000367800.8",
"protein_id": "ENSP00000356774.4",
"transcript_support_level": 1,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3720,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "ENST00000457866.6",
"protein_id": "ENSP00000388650.2",
"transcript_support_level": 1,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3802,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "NM_001134830.2",
"protein_id": "NP_001128302.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3715,
"cdna_end": null,
"cdna_length": 5916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "NM_001350503.2",
"protein_id": "NP_001337432.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3971,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "NM_017651.5",
"protein_id": "NP_060121.3",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3777,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "ENST00000681022.1",
"protein_id": "ENSP00000505121.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 6453,
"cdna_end": null,
"cdna_length": 8779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "ENST00000681340.1",
"protein_id": "ENSP00000505666.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3989,
"cdna_end": null,
"cdna_length": 5303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "ENST00000681365.1",
"protein_id": "ENSP00000506604.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 4205,
"cdna_end": null,
"cdna_length": 6531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "ENST00000681522.1",
"protein_id": "ENSP00000506005.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 4007,
"cdna_end": null,
"cdna_length": 6333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "ENST00000681841.1",
"protein_id": "ENSP00000504965.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 4006,
"cdna_end": null,
"cdna_length": 6332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3350A>G",
"hgvs_p": "p.Glu1117Gly",
"transcript": "ENST00000681301.1",
"protein_id": "ENSP00000505093.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3242A>G",
"hgvs_p": "p.Glu1081Gly",
"transcript": "ENST00000679450.1",
"protein_id": "ENSP00000506494.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3242,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3242,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "XM_011535910.4",
"protein_id": "XP_011534212.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 4033,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly",
"transcript": "XM_011535911.4",
"protein_id": "XP_011534213.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3503,
"cds_end": null,
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"cdna_start": 3800,
"cdna_end": null,
"cdna_length": 6001,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "n.*306A>G",
"hgvs_p": null,
"transcript": "ENST00000475846.6",
"protein_id": "ENSP00000435710.1",
"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": 2920,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "n.544A>G",
"hgvs_p": null,
"transcript": "ENST00000498558.6",
"protein_id": null,
"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": 2819,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "n.*292A>G",
"hgvs_p": null,
"transcript": "ENST00000527681.2",
"protein_id": "ENSP00000433864.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "n.*3835A>G",
"hgvs_p": null,
"transcript": "ENST00000679434.1",
"protein_id": "ENSP00000505592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6293,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "n.2878A>G",
"hgvs_p": null,
"transcript": "ENST00000679490.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4619,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "n.*3531A>G",
"hgvs_p": null,
"transcript": "ENST00000679589.1",
"protein_id": "ENSP00000506644.1",
"transcript_support_level": null,
"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": 5397,
"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": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "n.*1840A>G",
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"aa_length": 1168,
"cds_start": -4,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5875,
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.3486-4861A>G",
"hgvs_p": null,
"transcript": "XM_047418943.1",
"protein_id": "XP_047274899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1168,
"cds_start": -4,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"dbsnp": "rs199578341",
"frequency_reference_population": 0.0020572257,
"hom_count_reference_population": 4,
"allele_count_reference_population": 3320,
"gnomad_exomes_af": 0.00216618,
"gnomad_genomes_af": 0.00101141,
"gnomad_exomes_ac": 3166,
"gnomad_genomes_ac": 154,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007654070854187012,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.071,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.932,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000265602.11",
"gene_symbol": "AHI1",
"hgnc_id": 21575,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Glu1168Gly"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000746871.1",
"gene_symbol": "ENSG00000234084",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.173-11060T>C",
"hgvs_p": null
}
],
"clinvar_disease": "AHI1-related disorder,Intellectual disability,Joubert syndrome,Joubert syndrome 3,Retinal dystrophy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:2",
"phenotype_combined": "not specified|Joubert syndrome|Intellectual disability|Joubert syndrome 3|AHI1-related disorder|not provided|Retinal dystrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}