← 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: 13-113822075-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113822075&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113822075,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000820.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1765G>C",
"hgvs_p": "p.Glu589Gln",
"transcript": "NM_000820.4",
"protein_id": "NP_000811.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 678,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327773.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000820.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1765G>C",
"hgvs_p": "p.Glu589Gln",
"transcript": "ENST00000327773.7",
"protein_id": "ENSP00000331831.6",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 678,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000820.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327773.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.2104G>C",
"hgvs_p": "p.Glu702Gln",
"transcript": "ENST00000881729.1",
"protein_id": "ENSP00000551788.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 791,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881729.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1957G>C",
"hgvs_p": "p.Glu653Gln",
"transcript": "ENST00000881736.1",
"protein_id": "ENSP00000551795.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 742,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881736.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1951G>C",
"hgvs_p": "p.Glu651Gln",
"transcript": "ENST00000952114.1",
"protein_id": "ENSP00000622173.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 740,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952114.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1933G>C",
"hgvs_p": "p.Glu645Gln",
"transcript": "ENST00000881740.1",
"protein_id": "ENSP00000551799.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 734,
"cds_start": 1933,
"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": "ENST00000881740.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1897G>C",
"hgvs_p": "p.Glu633Gln",
"transcript": "ENST00000881726.1",
"protein_id": "ENSP00000551785.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 722,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881726.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1894G>C",
"hgvs_p": "p.Glu632Gln",
"transcript": "ENST00000881723.1",
"protein_id": "ENSP00000551782.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 721,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881723.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Glu631Gln",
"transcript": "ENST00000881737.1",
"protein_id": "ENSP00000551796.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 720,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881737.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Glu631Gln",
"transcript": "ENST00000952108.1",
"protein_id": "ENSP00000622167.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 720,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952108.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1888G>C",
"hgvs_p": "p.Glu630Gln",
"transcript": "ENST00000952101.1",
"protein_id": "ENSP00000622160.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 719,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952101.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1873G>C",
"hgvs_p": "p.Glu625Gln",
"transcript": "ENST00000952109.1",
"protein_id": "ENSP00000622168.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 714,
"cds_start": 1873,
"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": "ENST00000952109.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1819G>C",
"hgvs_p": "p.Glu607Gln",
"transcript": "ENST00000881720.1",
"protein_id": "ENSP00000551779.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 696,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881720.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1813G>C",
"hgvs_p": "p.Glu605Gln",
"transcript": "ENST00000881727.1",
"protein_id": "ENSP00000551786.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 694,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881727.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1795G>C",
"hgvs_p": "p.Glu599Gln",
"transcript": "ENST00000952113.1",
"protein_id": "ENSP00000622172.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 688,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952113.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1765G>C",
"hgvs_p": "p.Glu589Gln",
"transcript": "ENST00000881731.1",
"protein_id": "ENSP00000551790.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 687,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881731.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1783G>C",
"hgvs_p": "p.Glu595Gln",
"transcript": "ENST00000881739.1",
"protein_id": "ENSP00000551798.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 684,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881739.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1759G>C",
"hgvs_p": "p.Glu587Gln",
"transcript": "ENST00000881721.1",
"protein_id": "ENSP00000551780.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 676,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881721.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1711G>C",
"hgvs_p": "p.Glu571Gln",
"transcript": "ENST00000881728.1",
"protein_id": "ENSP00000551787.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 660,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881728.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Glu566Gln",
"transcript": "ENST00000952110.1",
"protein_id": "ENSP00000622169.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 655,
"cds_start": 1696,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952110.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1675G>C",
"hgvs_p": "p.Glu559Gln",
"transcript": "ENST00000952106.1",
"protein_id": "ENSP00000622165.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 648,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952106.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Glu548Gln",
"transcript": "ENST00000881725.1",
"protein_id": "ENSP00000551784.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 637,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881725.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Glu548Gln",
"transcript": "ENST00000881733.1",
"protein_id": "ENSP00000551792.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 637,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881733.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1642G>C",
"hgvs_p": "p.Glu548Gln",
"transcript": "ENST00000952111.1",
"protein_id": "ENSP00000622170.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 637,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952111.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1636G>C",
"hgvs_p": "p.Glu546Gln",
"transcript": "ENST00000952107.1",
"protein_id": "ENSP00000622166.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 635,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952107.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Glu543Gln",
"transcript": "ENST00000952103.1",
"protein_id": "ENSP00000622162.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 632,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952103.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1612G>C",
"hgvs_p": "p.Glu538Gln",
"transcript": "ENST00000881722.1",
"protein_id": "ENSP00000551781.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 627,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881722.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1606G>C",
"hgvs_p": "p.Glu536Gln",
"transcript": "ENST00000952112.1",
"protein_id": "ENSP00000622171.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 625,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952112.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1549G>C",
"hgvs_p": "p.Glu517Gln",
"transcript": "ENST00000881724.1",
"protein_id": "ENSP00000551783.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 606,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881724.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1510G>C",
"hgvs_p": "p.Glu504Gln",
"transcript": "ENST00000952105.1",
"protein_id": "ENSP00000622164.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 593,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952105.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Glu486Gln",
"transcript": "ENST00000881730.1",
"protein_id": "ENSP00000551789.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 575,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881730.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1453G>C",
"hgvs_p": "p.Glu485Gln",
"transcript": "ENST00000881734.1",
"protein_id": "ENSP00000551793.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 574,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881734.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1330G>C",
"hgvs_p": "p.Glu444Gln",
"transcript": "ENST00000952104.1",
"protein_id": "ENSP00000622163.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 533,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952104.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1123G>C",
"hgvs_p": "p.Glu375Gln",
"transcript": "ENST00000881738.1",
"protein_id": "ENSP00000551797.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 464,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881738.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.940G>C",
"hgvs_p": "p.Glu314Gln",
"transcript": "ENST00000881735.1",
"protein_id": "ENSP00000551794.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 403,
"cds_start": 940,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881735.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.877G>C",
"hgvs_p": "p.Glu293Gln",
"transcript": "ENST00000881732.1",
"protein_id": "ENSP00000551791.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 382,
"cds_start": 877,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881732.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1607-1057G>C",
"hgvs_p": null,
"transcript": "ENST00000952115.1",
"protein_id": "ENSP00000622174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952115.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "c.1478-1057G>C",
"hgvs_p": null,
"transcript": "ENST00000952102.1",
"protein_id": "ENSP00000622161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": null,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "n.1920G>C",
"hgvs_p": null,
"transcript": "ENST00000480426.5",
"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": "ENST00000480426.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "n.1120G>C",
"hgvs_p": null,
"transcript": "ENST00000608763.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000608763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"hgvs_c": "n.1585G>C",
"hgvs_p": null,
"transcript": "ENST00000610073.1",
"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": "ENST00000610073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GAS6-AS1",
"gene_hgnc_id": 39826,
"hgvs_c": "n.62+6384C>G",
"hgvs_p": null,
"transcript": "ENST00000458001.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000458001.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GAS6-AS1",
"gene_hgnc_id": 39826,
"hgvs_c": "n.82+6384C>G",
"hgvs_p": null,
"transcript": "NR_044995.2",
"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_044995.2"
}
],
"gene_symbol": "GAS6",
"gene_hgnc_id": 4168,
"dbsnp": "rs1038795104",
"frequency_reference_population": 0.0000062744466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000138741,
"gnomad_genomes_af": 0.0000525507,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1720513105392456,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.0834,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.161,
"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": 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_000820.4",
"gene_symbol": "GAS6",
"hgnc_id": 4168,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1765G>C",
"hgvs_p": "p.Glu589Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_044995.2",
"gene_symbol": "GAS6-AS1",
"hgnc_id": 39826,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+6384C>G",
"hgvs_p": null
}
],
"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
}