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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: 7-105555075-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=105555075&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 105555075,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_021930.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1519G>T",
"hgvs_p": "p.Glu507*",
"transcript": "NM_021930.6",
"protein_id": "NP_068749.3",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 792,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": "ENST00000257700.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021930.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1519G>T",
"hgvs_p": "p.Glu507*",
"transcript": "ENST00000257700.7",
"protein_id": "ENSP00000257700.2",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 792,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": "NM_021930.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257700.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1624G>T",
"hgvs_p": "p.Glu542*",
"transcript": "ENST00000967558.1",
"protein_id": "ENSP00000637617.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 827,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967558.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1519G>T",
"hgvs_p": "p.Glu507*",
"transcript": "ENST00000899074.1",
"protein_id": "ENSP00000569133.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 826,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899074.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Glu525*",
"transcript": "ENST00000899073.1",
"protein_id": "ENSP00000569132.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 810,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899073.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1549G>T",
"hgvs_p": "p.Glu517*",
"transcript": "ENST00000899072.1",
"protein_id": "ENSP00000569131.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 802,
"cds_start": 1549,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899072.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1495G>T",
"hgvs_p": "p.Glu499*",
"transcript": "ENST00000899070.1",
"protein_id": "ENSP00000569129.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 784,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899070.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1495G>T",
"hgvs_p": "p.Glu499*",
"transcript": "ENST00000930235.1",
"protein_id": "ENSP00000600294.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 784,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930235.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1480G>T",
"hgvs_p": "p.Glu494*",
"transcript": "ENST00000967559.1",
"protein_id": "ENSP00000637618.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 779,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967559.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1435G>T",
"hgvs_p": "p.Glu479*",
"transcript": "ENST00000930233.1",
"protein_id": "ENSP00000600292.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 764,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930233.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1399G>T",
"hgvs_p": "p.Glu467*",
"transcript": "ENST00000930234.1",
"protein_id": "ENSP00000600293.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 752,
"cds_start": 1399,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930234.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1393G>T",
"hgvs_p": "p.Glu465*",
"transcript": "ENST00000930237.1",
"protein_id": "ENSP00000600296.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 750,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930237.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1357G>T",
"hgvs_p": "p.Glu453*",
"transcript": "ENST00000930236.1",
"protein_id": "ENSP00000600295.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 738,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930236.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1345G>T",
"hgvs_p": "p.Glu449*",
"transcript": "ENST00000899071.1",
"protein_id": "ENSP00000569130.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 734,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899071.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1285G>T",
"hgvs_p": "p.Glu429*",
"transcript": "NM_001346599.2",
"protein_id": "NP_001333528.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 714,
"cds_start": 1285,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346599.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1519G>T",
"hgvs_p": "p.Glu507*",
"transcript": "ENST00000930232.1",
"protein_id": "ENSP00000600291.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 692,
"cds_start": 1519,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930232.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Glu199*",
"transcript": "NM_001346601.2",
"protein_id": "NP_001333530.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 484,
"cds_start": 595,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346601.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Glu166*",
"transcript": "NM_001346600.2",
"protein_id": "NP_001333529.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 451,
"cds_start": 496,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346600.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Glu166*",
"transcript": "NM_001346603.2",
"protein_id": "NP_001333532.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 451,
"cds_start": 496,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346603.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.1096G>T",
"hgvs_p": "p.Glu366*",
"transcript": "XM_047420686.1",
"protein_id": "XP_047276642.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 651,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420686.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.595G>T",
"hgvs_p": "p.Glu199*",
"transcript": "XM_047420687.1",
"protein_id": "XP_047276643.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 484,
"cds_start": 595,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420687.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Glu166*",
"transcript": "XM_005250524.5",
"protein_id": "XP_005250581.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 451,
"cds_start": 496,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
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},
{
"aa_ref": "E",
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"protein_coding": true,
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"consequences": [
"stop_gained"
],
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"exon_count": 11,
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"gene_symbol": "RINT1",
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"protein_id": "XP_011514760.1",
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"feature": "XM_011516458.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "RINT1",
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"hgvs_c": "n.523G>T",
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"transcript": "ENST00000474123.1",
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"biotype": "retained_intron",
"feature": "ENST00000474123.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 15,
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"gene_symbol": "RINT1",
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"transcript": "ENST00000497979.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497979.5"
},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "RINT1",
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"hgvs_c": "n.*1124G>T",
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"transcript": "ENST00000497979.5",
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"feature": "ENST00000497979.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "RINT1",
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"hgvs_c": "n.1586+3368G>T",
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"transcript": "NR_144478.2",
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_144478.2"
}
],
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"dbsnp": "rs143184349",
"frequency_reference_population": 6.841246e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84125e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.732,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_021930.6",
"gene_symbol": "RINT1",
"hgnc_id": 21876,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.1519G>T",
"hgvs_p": "p.Glu507*"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}