← 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: 2-69327007-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=69327007&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 69327007,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001244710.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1962G>C",
"hgvs_p": "p.Lys654Asn",
"transcript": "NM_001244710.2",
"protein_id": "NP_001231639.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 699,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357308.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244710.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1962G>C",
"hgvs_p": "p.Lys654Asn",
"transcript": "ENST00000357308.9",
"protein_id": "ENSP00000349860.4",
"transcript_support_level": 5,
"aa_start": 654,
"aa_end": null,
"aa_length": 699,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001244710.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357308.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1908G>C",
"hgvs_p": "p.Lys636Asn",
"transcript": "ENST00000361060.5",
"protein_id": "ENSP00000354347.4",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 681,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361060.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.2010G>C",
"hgvs_p": "p.Lys670Asn",
"transcript": "ENST00000955842.1",
"protein_id": "ENSP00000625901.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 715,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955842.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1992G>C",
"hgvs_p": "p.Lys664Asn",
"transcript": "ENST00000955849.1",
"protein_id": "ENSP00000625908.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 709,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955849.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1956G>C",
"hgvs_p": "p.Lys652Asn",
"transcript": "ENST00000852904.1",
"protein_id": "ENSP00000522963.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 697,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852904.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1908G>C",
"hgvs_p": "p.Lys636Asn",
"transcript": "NM_002056.4",
"protein_id": "NP_002047.2",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 681,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002056.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1905G>C",
"hgvs_p": "p.Lys635Asn",
"transcript": "ENST00000852902.1",
"protein_id": "ENSP00000522961.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 680,
"cds_start": 1905,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852902.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1854G>C",
"hgvs_p": "p.Lys618Asn",
"transcript": "ENST00000852899.1",
"protein_id": "ENSP00000522958.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 663,
"cds_start": 1854,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852899.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1854G>C",
"hgvs_p": "p.Lys618Asn",
"transcript": "ENST00000955848.1",
"protein_id": "ENSP00000625907.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 663,
"cds_start": 1854,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955848.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1836G>C",
"hgvs_p": "p.Lys612Asn",
"transcript": "ENST00000955843.1",
"protein_id": "ENSP00000625902.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 657,
"cds_start": 1836,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955843.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1812G>C",
"hgvs_p": "p.Lys604Asn",
"transcript": "ENST00000955847.1",
"protein_id": "ENSP00000625906.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 649,
"cds_start": 1812,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955847.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1800G>C",
"hgvs_p": "p.Lys600Asn",
"transcript": "ENST00000852901.1",
"protein_id": "ENSP00000522960.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 645,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852901.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1800G>C",
"hgvs_p": "p.Lys600Asn",
"transcript": "ENST00000852903.1",
"protein_id": "ENSP00000522962.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 645,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852903.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1794G>C",
"hgvs_p": "p.Lys598Asn",
"transcript": "ENST00000955845.1",
"protein_id": "ENSP00000625904.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 643,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955845.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1782G>C",
"hgvs_p": "p.Lys594Asn",
"transcript": "ENST00000852900.1",
"protein_id": "ENSP00000522959.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 639,
"cds_start": 1782,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852900.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1746G>C",
"hgvs_p": "p.Lys582Asn",
"transcript": "ENST00000955846.1",
"protein_id": "ENSP00000625905.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 627,
"cds_start": 1746,
"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": "ENST00000955846.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1740G>C",
"hgvs_p": "p.Lys580Asn",
"transcript": "ENST00000674507.1",
"protein_id": "ENSP00000501332.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 625,
"cds_start": 1740,
"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": "ENST00000674507.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1719G>C",
"hgvs_p": "p.Lys573Asn",
"transcript": "ENST00000955850.1",
"protein_id": "ENSP00000625909.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 618,
"cds_start": 1719,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955850.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1692G>C",
"hgvs_p": "p.Lys564Asn",
"transcript": "ENST00000674438.1",
"protein_id": "ENSP00000501469.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 609,
"cds_start": 1692,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674438.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1638G>C",
"hgvs_p": "p.Lys546Asn",
"transcript": "ENST00000852906.1",
"protein_id": "ENSP00000522965.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 591,
"cds_start": 1638,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852906.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1635G>C",
"hgvs_p": "p.Lys545Asn",
"transcript": "ENST00000852905.1",
"protein_id": "ENSP00000522964.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 590,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852905.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1629G>C",
"hgvs_p": "p.Lys543Asn",
"transcript": "ENST00000912110.1",
"protein_id": "ENSP00000582169.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 588,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912110.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1176G>C",
"hgvs_p": "p.Lys392Asn",
"transcript": "ENST00000955844.1",
"protein_id": "ENSP00000625903.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 437,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955844.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.2037G>C",
"hgvs_p": "p.Lys679Asn",
"transcript": "XM_017003801.2",
"protein_id": "XP_016859290.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 724,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003801.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1983G>C",
"hgvs_p": "p.Lys661Asn",
"transcript": "XM_017003802.3",
"protein_id": "XP_016859291.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 706,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003802.3"
}
],
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"dbsnp": "rs368208403",
"frequency_reference_population": 0.0000024784529,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205233,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2956628203392029,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": 0.4034,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.061,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001244710.2",
"gene_symbol": "GFPT1",
"hgnc_id": 4241,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1962G>C",
"hgvs_p": "p.Lys654Asn"
}
],
"clinvar_disease": "Congenital myasthenic syndrome 12,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Congenital myasthenic syndrome 12|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}