← 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: 12-66432560-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=66432560&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 66432560,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001379345.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1756A>C",
"hgvs_p": "p.Ile586Leu",
"transcript": "NM_001366722.1",
"protein_id": "NP_001353651.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1756,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359742.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366722.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1756A>C",
"hgvs_p": "p.Ile586Leu",
"transcript": "ENST00000359742.9",
"protein_id": "ENSP00000352780.4",
"transcript_support_level": 5,
"aa_start": 586,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1756,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366722.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359742.9"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1600A>C",
"hgvs_p": "p.Ile534Leu",
"transcript": "ENST00000398016.7",
"protein_id": "ENSP00000381098.3",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1600,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398016.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1276A>C",
"hgvs_p": "p.Ile426Leu",
"transcript": "ENST00000536215.5",
"protein_id": "ENSP00000446011.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 786,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536215.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1834A>C",
"hgvs_p": "p.Ile612Leu",
"transcript": "NM_001379345.1",
"protein_id": "NP_001366274.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1834,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379345.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1825A>C",
"hgvs_p": "p.Ile609Leu",
"transcript": "ENST00000696989.1",
"protein_id": "ENSP00000513025.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1825,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696989.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1753A>C",
"hgvs_p": "p.Ile585Leu",
"transcript": "ENST00000967087.1",
"protein_id": "ENSP00000637146.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1753,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967087.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1759A>C",
"hgvs_p": "p.Ile587Leu",
"transcript": "NM_001439322.1",
"protein_id": "NP_001426251.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 1114,
"cds_start": 1759,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439322.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1756A>C",
"hgvs_p": "p.Ile586Leu",
"transcript": "NM_001379346.1",
"protein_id": "NP_001366275.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1756,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379346.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1756A>C",
"hgvs_p": "p.Ile586Leu",
"transcript": "NM_001439323.1",
"protein_id": "NP_001426252.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1756,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439323.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1678A>C",
"hgvs_p": "p.Ile560Leu",
"transcript": "NM_001366724.1",
"protein_id": "NP_001353653.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1678,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366724.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1675A>C",
"hgvs_p": "p.Ile559Leu",
"transcript": "NM_001366723.1",
"protein_id": "NP_001353652.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1101,
"cds_start": 1675,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366723.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1678A>C",
"hgvs_p": "p.Ile560Leu",
"transcript": "NM_001379347.1",
"protein_id": "NP_001366276.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1087,
"cds_start": 1678,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379347.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1675A>C",
"hgvs_p": "p.Ile559Leu",
"transcript": "NM_001379348.1",
"protein_id": "NP_001366277.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1675,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379348.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1603A>C",
"hgvs_p": "p.Ile535Leu",
"transcript": "NM_001379349.1",
"protein_id": "NP_001366278.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 1077,
"cds_start": 1603,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379349.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1600A>C",
"hgvs_p": "p.Ile534Leu",
"transcript": "NM_021150.4",
"protein_id": "NP_066973.2",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1600,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021150.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1600A>C",
"hgvs_p": "p.Ile534Leu",
"transcript": "NM_001178074.2",
"protein_id": "NP_001171545.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1600,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178074.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1600A>C",
"hgvs_p": "p.Ile534Leu",
"transcript": "NM_001379351.1",
"protein_id": "NP_001366280.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1600,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379351.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1600A>C",
"hgvs_p": "p.Ile534Leu",
"transcript": "ENST00000538211.5",
"protein_id": "ENSP00000446047.1",
"transcript_support_level": 5,
"aa_start": 534,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1600,
"cds_end": null,
"cds_length": 3169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538211.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1198A>C",
"hgvs_p": "p.Ile400Leu",
"transcript": "ENST00000538164.5",
"protein_id": "ENSP00000439053.1",
"transcript_support_level": 5,
"aa_start": 400,
"aa_end": null,
"aa_length": 927,
"cds_start": 1198,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538164.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1432A>C",
"hgvs_p": "p.Ile478Leu",
"transcript": "ENST00000540433.5",
"protein_id": "ENSP00000446024.1",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 875,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540433.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1981A>C",
"hgvs_p": "p.Ile661Leu",
"transcript": "XM_017019098.2",
"protein_id": "XP_016874587.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1981,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019098.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1978A>C",
"hgvs_p": "p.Ile660Leu",
"transcript": "XM_047428616.1",
"protein_id": "XP_047284572.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1978,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428616.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1834A>C",
"hgvs_p": "p.Ile612Leu",
"transcript": "XM_047428617.1",
"protein_id": "XP_047284573.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1834,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428617.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1825A>C",
"hgvs_p": "p.Ile609Leu",
"transcript": "XM_017019100.2",
"protein_id": "XP_016874589.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1825,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019100.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1822A>C",
"hgvs_p": "p.Ile608Leu",
"transcript": "XM_047428618.1",
"protein_id": "XP_047284574.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1822,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428618.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1759A>C",
"hgvs_p": "p.Ile587Leu",
"transcript": "XM_005268754.5",
"protein_id": "XP_005268811.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1759,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268754.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1753A>C",
"hgvs_p": "p.Ile585Leu",
"transcript": "XM_047428621.1",
"protein_id": "XP_047284577.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1112,
"cds_start": 1753,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428621.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1678A>C",
"hgvs_p": "p.Ile560Leu",
"transcript": "XM_005268757.5",
"protein_id": "XP_005268814.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1678,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268757.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1675A>C",
"hgvs_p": "p.Ile559Leu",
"transcript": "XM_047428622.1",
"protein_id": "XP_047284578.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1675,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428622.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.337+83059A>C",
"hgvs_p": null,
"transcript": "ENST00000540854.5",
"protein_id": "ENSP00000443006.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540854.5"
}
],
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"dbsnp": "rs189438534",
"frequency_reference_population": 0.002186967,
"hom_count_reference_population": 5,
"allele_count_reference_population": 3465,
"gnomad_exomes_af": 0.00226457,
"gnomad_genomes_af": 0.00145738,
"gnomad_exomes_ac": 3243,
"gnomad_genomes_ac": 222,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013707876205444336,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.3476,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.302,
"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": -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": "NM_001379345.1",
"gene_symbol": "GRIP1",
"hgnc_id": 18708,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1834A>C",
"hgvs_p": "p.Ile612Leu"
}
],
"clinvar_disease": "Fraser syndrome 3,GRIP1-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:4",
"phenotype_combined": "not specified|Fraser syndrome 3|not provided|GRIP1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}