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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: 14-21345126-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21345126&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21345126,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000400017.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3546C>T",
"hgvs_p": "p.Asp1182Asp",
"transcript": "NM_020366.4",
"protein_id": "NP_065099.3",
"transcript_support_level": null,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3546,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": "ENST00000400017.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3546C>T",
"hgvs_p": "p.Asp1182Asp",
"transcript": "ENST00000400017.7",
"protein_id": "ENSP00000382895.2",
"transcript_support_level": 1,
"aa_start": 1182,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3546,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": "NM_020366.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1971C>T",
"hgvs_p": "p.Asp657Asp",
"transcript": "ENST00000555587.5",
"protein_id": "ENSP00000451262.1",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 761,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1524C>T",
"hgvs_p": "p.Asp508Asp",
"transcript": "ENST00000382933.8",
"protein_id": "ENSP00000372391.4",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 612,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 2004,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1893C>T",
"hgvs_p": null,
"transcript": "ENST00000555322.5",
"protein_id": "ENSP00000450662.1",
"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": 2373,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1559C>T",
"hgvs_p": null,
"transcript": "ENST00000555489.5",
"protein_id": "ENSP00000451044.1",
"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": 2139,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1893C>T",
"hgvs_p": null,
"transcript": "ENST00000555322.5",
"protein_id": "ENSP00000450662.1",
"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": 2373,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "n.*1559C>T",
"hgvs_p": null,
"transcript": "ENST00000555489.5",
"protein_id": "ENSP00000451044.1",
"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": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.3432C>T",
"hgvs_p": "p.Asp1144Asp",
"transcript": "ENST00000557771.5",
"protein_id": "ENSP00000451219.1",
"transcript_support_level": 5,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3432,
"cds_end": null,
"cds_length": 3747,
"cdna_start": 3470,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2517C>T",
"hgvs_p": "p.Asp839Asp",
"transcript": "ENST00000556336.5",
"protein_id": "ENSP00000450445.1",
"transcript_support_level": 5,
"aa_start": 839,
"aa_end": null,
"aa_length": 943,
"cds_start": 2517,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2555,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2472C>T",
"hgvs_p": "p.Asp824Asp",
"transcript": "NM_001377948.1",
"protein_id": "NP_001364877.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 928,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1632C>T",
"hgvs_p": "p.Asp544Asp",
"transcript": "NM_001377949.1",
"protein_id": "NP_001364878.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 648,
"cds_start": 1632,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1524C>T",
"hgvs_p": "p.Asp508Asp",
"transcript": "NM_001377523.1",
"protein_id": "NP_001364452.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 612,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1524C>T",
"hgvs_p": "p.Asp508Asp",
"transcript": "NM_001377950.1",
"protein_id": "NP_001364879.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 612,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Asp343Asp",
"transcript": "NM_001377951.1",
"protein_id": "NP_001364880.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 447,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2475C>T",
"hgvs_p": "p.Asp825Asp",
"transcript": "XM_005267879.2",
"protein_id": "XP_005267936.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 929,
"cds_start": 2475,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2472C>T",
"hgvs_p": "p.Asp824Asp",
"transcript": "XM_011536978.1",
"protein_id": "XP_011535280.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 928,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2469C>T",
"hgvs_p": "p.Asp823Asp",
"transcript": "XM_024449663.1",
"protein_id": "XP_024305431.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 927,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2442C>T",
"hgvs_p": "p.Asp814Asp",
"transcript": "XM_005267880.2",
"protein_id": "XP_005267937.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 918,
"cds_start": 2442,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.2259C>T",
"hgvs_p": "p.Asp753Asp",
"transcript": "XM_011536979.1",
"protein_id": "XP_011535281.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 857,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1980C>T",
"hgvs_p": "p.Asp660Asp",
"transcript": "XM_011536981.1",
"protein_id": "XP_011535283.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 764,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1977C>T",
"hgvs_p": "p.Asp659Asp",
"transcript": "XM_017021473.2",
"protein_id": "XP_016876962.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 763,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"hgvs_c": "c.1974C>T",
"hgvs_p": "p.Asp658Asp",
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},
{
"aa_ref": "D",
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"protein_coding": true,
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],
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"hgvs_c": "c.1923C>T",
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},
{
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],
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"gene_symbol": "RPGRIP1",
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"hgvs_c": "c.1635C>T",
"hgvs_p": "p.Asp545Asp",
"transcript": "XM_011536982.1",
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},
{
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],
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"gene_symbol": "RPGRIP1",
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"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Asp543Asp",
"transcript": "XM_024449666.1",
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},
{
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],
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"gene_symbol": "RPGRIP1",
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"hgvs_c": "c.1527C>T",
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},
{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RPGRIP1",
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"hgvs_c": "n.2478C>T",
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"transcript": "ENST00000553927.1",
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"feature": null
}
],
"gene_symbol": "RPGRIP1",
"gene_hgnc_id": 13436,
"dbsnp": "rs34116882",
"frequency_reference_population": 0.02157655,
"hom_count_reference_population": 420,
"allele_count_reference_population": 34765,
"gnomad_exomes_af": 0.0222216,
"gnomad_genomes_af": 0.0153951,
"gnomad_exomes_ac": 32421,
"gnomad_genomes_ac": 2344,
"gnomad_exomes_homalt": 396,
"gnomad_genomes_homalt": 24,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.036,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000400017.7",
"gene_symbol": "RPGRIP1",
"hgnc_id": 13436,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3546C>T",
"hgvs_p": "p.Asp1182Asp"
}
],
"clinvar_disease": "Cone-rod dystrophy 13,Leber congenital amaurosis 6,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5 O:1",
"phenotype_combined": "not provided|not specified|Cone-rod dystrophy 13|Leber congenital amaurosis 6|Leber congenital amaurosis 6;Cone-rod dystrophy 13",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}