← Back to variant description
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: 7-105547043-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=105547043&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 105547043,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021930.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile",
"transcript": "NM_021930.6",
"protein_id": "NP_068749.3",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 792,
"cds_start": 649,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257700.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021930.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile",
"transcript": "ENST00000257700.7",
"protein_id": "ENSP00000257700.2",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 792,
"cds_start": 649,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021930.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257700.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Val260Ile",
"transcript": "ENST00000967558.1",
"protein_id": "ENSP00000637617.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 827,
"cds_start": 778,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967558.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile",
"transcript": "ENST00000899074.1",
"protein_id": "ENSP00000569133.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 826,
"cds_start": 649,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899074.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Val235Ile",
"transcript": "ENST00000899073.1",
"protein_id": "ENSP00000569132.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 810,
"cds_start": 703,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899073.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Ile",
"transcript": "ENST00000899072.1",
"protein_id": "ENSP00000569131.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 802,
"cds_start": 679,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899072.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile",
"transcript": "ENST00000899070.1",
"protein_id": "ENSP00000569129.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 784,
"cds_start": 649,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899070.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile",
"transcript": "ENST00000930235.1",
"protein_id": "ENSP00000600294.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 784,
"cds_start": 649,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930235.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile",
"transcript": "ENST00000967559.1",
"protein_id": "ENSP00000637618.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 779,
"cds_start": 649,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967559.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Ile",
"transcript": "ENST00000930233.1",
"protein_id": "ENSP00000600292.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 764,
"cds_start": 565,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930233.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Val175Ile",
"transcript": "ENST00000930237.1",
"protein_id": "ENSP00000600296.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 750,
"cds_start": 523,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930237.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile",
"transcript": "ENST00000930236.1",
"protein_id": "ENSP00000600295.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 738,
"cds_start": 649,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930236.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Val139Ile",
"transcript": "NM_001346599.2",
"protein_id": "NP_001333528.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 714,
"cds_start": 415,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346599.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile",
"transcript": "ENST00000930232.1",
"protein_id": "ENSP00000600291.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 692,
"cds_start": 649,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930232.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Ile",
"transcript": "XM_047420686.1",
"protein_id": "XP_047276642.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 651,
"cds_start": 226,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.-274G>A",
"hgvs_p": null,
"transcript": "NM_001346601.2",
"protein_id": "NP_001333530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346601.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.-371G>A",
"hgvs_p": null,
"transcript": "NM_001346600.2",
"protein_id": "NP_001333529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346600.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.570-141G>A",
"hgvs_p": null,
"transcript": "ENST00000930234.1",
"protein_id": "ENSP00000600293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.516-141G>A",
"hgvs_p": null,
"transcript": "ENST00000899071.1",
"protein_id": "ENSP00000569130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": null,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899071.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.-27-3012G>A",
"hgvs_p": null,
"transcript": "NM_001346603.2",
"protein_id": "NP_001333532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346603.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*347G>A",
"hgvs_p": null,
"transcript": "ENST00000467392.5",
"protein_id": "ENSP00000418805.1",
"transcript_support_level": 3,
"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": "ENST00000467392.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*254G>A",
"hgvs_p": null,
"transcript": "ENST00000497979.5",
"protein_id": "ENSP00000420582.1",
"transcript_support_level": 5,
"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": "ENST00000497979.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.764G>A",
"hgvs_p": null,
"transcript": "NR_144478.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_144478.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*347G>A",
"hgvs_p": null,
"transcript": "ENST00000467392.5",
"protein_id": "ENSP00000418805.1",
"transcript_support_level": 3,
"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": "ENST00000467392.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*254G>A",
"hgvs_p": null,
"transcript": "ENST00000497979.5",
"protein_id": "ENSP00000420582.1",
"transcript_support_level": 5,
"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": "ENST00000497979.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.-381G>A",
"hgvs_p": null,
"transcript": "XM_047420687.1",
"protein_id": "XP_047276643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.-469G>A",
"hgvs_p": null,
"transcript": "XM_005250524.5",
"protein_id": "XP_005250581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250524.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.-612G>A",
"hgvs_p": null,
"transcript": "XM_011516458.4",
"protein_id": "XP_011514760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516458.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "c.*125G>A",
"hgvs_p": null,
"transcript": "ENST00000493041.5",
"protein_id": "ENSP00000417954.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493041.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"hgvs_c": "n.*47G>A",
"hgvs_p": null,
"transcript": "ENST00000493258.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000493258.1"
}
],
"gene_symbol": "RINT1",
"gene_hgnc_id": 21876,
"dbsnp": "rs878855074",
"frequency_reference_population": 0.0000013683616,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136836,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18423977494239807,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0927,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.883,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021930.6",
"gene_symbol": "RINT1",
"hgnc_id": 21876,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Val217Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}