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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: 13-20663516-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20663516&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20663516,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000351808.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Arg696His",
"transcript": "NM_006531.5",
"protein_id": "NP_006522.2",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 824,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "ENST00000351808.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Arg696His",
"transcript": "ENST00000351808.10",
"protein_id": "ENSP00000261632.5",
"transcript_support_level": 1,
"aa_start": 696,
"aa_end": null,
"aa_length": 824,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "NM_006531.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2114G>A",
"hgvs_p": "p.Arg705His",
"transcript": "ENST00000319980.10",
"protein_id": "ENSP00000323580.6",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 833,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2114G>A",
"hgvs_p": "p.Arg705His",
"transcript": "NM_001318493.2",
"protein_id": "NP_001305422.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 833,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2114G>A",
"hgvs_p": "p.Arg705His",
"transcript": "NM_001353565.2",
"protein_id": "NP_001340494.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 833,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 2963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2114G>A",
"hgvs_p": "p.Arg705His",
"transcript": "NM_001353566.2",
"protein_id": "NP_001340495.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 833,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2413,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2114G>A",
"hgvs_p": "p.Arg705His",
"transcript": "NM_001353567.2",
"protein_id": "NP_001340496.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 833,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2114G>A",
"hgvs_p": "p.Arg705His",
"transcript": "NM_175605.5",
"protein_id": "NP_783195.2",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 833,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Arg696His",
"transcript": "NM_001353568.2",
"protein_id": "NP_001340497.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 824,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2030G>A",
"hgvs_p": "p.Arg677His",
"transcript": "NM_001318491.2",
"protein_id": "NP_001305420.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 805,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Arg671His",
"transcript": "NM_001353569.2",
"protein_id": "NP_001340498.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 799,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Arg671His",
"transcript": "NM_001353570.2",
"protein_id": "NP_001340499.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 799,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1985G>A",
"hgvs_p": "p.Arg662His",
"transcript": "NM_001353571.2",
"protein_id": "NP_001340500.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 790,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Arg696His",
"transcript": "NM_001353572.2",
"protein_id": "NP_001340501.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 787,
"cds_start": 2087,
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"cdna_start": 2193,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1943G>A",
"hgvs_p": "p.Arg648His",
"transcript": "NM_001353573.2",
"protein_id": "NP_001340502.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 776,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1928G>A",
"hgvs_p": "p.Arg643His",
"transcript": "NM_001353574.2",
"protein_id": "NP_001340503.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 771,
"cds_start": 1928,
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"cdna_start": 2034,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Arg671His",
"transcript": "NM_001353576.2",
"protein_id": "NP_001340505.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 762,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2012G>A",
"hgvs_p": "p.Arg671His",
"transcript": "NM_001353577.2",
"protein_id": "NP_001340506.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 762,
"cds_start": 2012,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1985G>A",
"hgvs_p": "p.Arg662His",
"transcript": "NM_001353578.2",
"protein_id": "NP_001340507.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
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"cds_start": 1985,
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"cdna_start": 2091,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"transcript": "NM_001353579.2",
"protein_id": "NP_001340508.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 613,
"cds_start": 1454,
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"cdna_start": 2123,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Arg696His",
"transcript": "XM_006719870.4",
"protein_id": "XP_006719933.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 824,
"cds_start": 2087,
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"cds_length": 2475,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Arg696His",
"transcript": "XM_017020757.2",
"protein_id": "XP_016876246.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 824,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.2087G>A",
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"canonical": false,
"protein_coding": true,
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"consequences": [
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],
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},
{
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"strand": true,
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],
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},
{
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"consequences": [
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},
{
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},
{
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},
{
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],
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"gene_symbol": "IFT88",
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},
{
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],
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},
{
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"non_coding_transcript_exon_variant"
],
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},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"transcript": "XR_007063700.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 24,
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"gene_symbol": "IFT88",
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"hgvs_c": "c.*254G>A",
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"transcript": "XM_047430676.1",
"protein_id": "XP_047286632.1",
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}
],
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"dbsnp": "rs373832683",
"frequency_reference_population": 0.00008863215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 143,
"gnomad_exomes_af": 0.0000916949,
"gnomad_genomes_af": 0.0000591942,
"gnomad_exomes_ac": 134,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35404855012893677,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.294,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3291,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.347,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.14,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM5,BP4,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM5",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000351808.10",
"gene_symbol": "IFT88",
"hgnc_id": 20606,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Arg696His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}