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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-69327042-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=69327042&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 69327042,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001244710.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"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.1927A>G",
"hgvs_p": "p.Thr643Ala",
"transcript": "NM_001244710.2",
"protein_id": "NP_001231639.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 699,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": "ENST00000357308.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244710.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1927A>G",
"hgvs_p": "p.Thr643Ala",
"transcript": "ENST00000357308.9",
"protein_id": "ENSP00000349860.4",
"transcript_support_level": 5,
"aa_start": 643,
"aa_end": null,
"aa_length": 699,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": "NM_001244710.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357308.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1873A>G",
"hgvs_p": "p.Thr625Ala",
"transcript": "ENST00000361060.5",
"protein_id": "ENSP00000354347.4",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 681,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 8632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361060.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1975A>G",
"hgvs_p": "p.Thr659Ala",
"transcript": "ENST00000955842.1",
"protein_id": "ENSP00000625901.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 715,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 6818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955842.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1957A>G",
"hgvs_p": "p.Thr653Ala",
"transcript": "ENST00000955849.1",
"protein_id": "ENSP00000625908.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 709,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955849.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1921A>G",
"hgvs_p": "p.Thr641Ala",
"transcript": "ENST00000852904.1",
"protein_id": "ENSP00000522963.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 697,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852904.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1873A>G",
"hgvs_p": "p.Thr625Ala",
"transcript": "NM_002056.4",
"protein_id": "NP_002047.2",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 681,
"cds_start": 1873,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 8611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002056.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1870A>G",
"hgvs_p": "p.Thr624Ala",
"transcript": "ENST00000852902.1",
"protein_id": "ENSP00000522961.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 680,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852902.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1819A>G",
"hgvs_p": "p.Thr607Ala",
"transcript": "ENST00000852899.1",
"protein_id": "ENSP00000522958.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 663,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 6681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852899.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1819A>G",
"hgvs_p": "p.Thr607Ala",
"transcript": "ENST00000955848.1",
"protein_id": "ENSP00000625907.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 663,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955848.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "ENST00000955843.1",
"protein_id": "ENSP00000625902.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 657,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955843.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1777A>G",
"hgvs_p": "p.Thr593Ala",
"transcript": "ENST00000955847.1",
"protein_id": "ENSP00000625906.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 649,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955847.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1765A>G",
"hgvs_p": "p.Thr589Ala",
"transcript": "ENST00000852901.1",
"protein_id": "ENSP00000522960.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 645,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 4597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852901.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1765A>G",
"hgvs_p": "p.Thr589Ala",
"transcript": "ENST00000852903.1",
"protein_id": "ENSP00000522962.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 645,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852903.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1759A>G",
"hgvs_p": "p.Thr587Ala",
"transcript": "ENST00000955845.1",
"protein_id": "ENSP00000625904.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 643,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955845.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1747A>G",
"hgvs_p": "p.Thr583Ala",
"transcript": "ENST00000852900.1",
"protein_id": "ENSP00000522959.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 639,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852900.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1711A>G",
"hgvs_p": "p.Thr571Ala",
"transcript": "ENST00000955846.1",
"protein_id": "ENSP00000625905.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 627,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955846.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1705A>G",
"hgvs_p": "p.Thr569Ala",
"transcript": "ENST00000674507.1",
"protein_id": "ENSP00000501332.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 625,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 5906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674507.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1684A>G",
"hgvs_p": "p.Thr562Ala",
"transcript": "ENST00000955850.1",
"protein_id": "ENSP00000625909.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 618,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955850.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1657A>G",
"hgvs_p": "p.Thr553Ala",
"transcript": "ENST00000674438.1",
"protein_id": "ENSP00000501469.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 609,
"cds_start": 1657,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674438.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1603A>G",
"hgvs_p": "p.Thr535Ala",
"transcript": "ENST00000852906.1",
"protein_id": "ENSP00000522965.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 591,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852906.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1600A>G",
"hgvs_p": "p.Thr534Ala",
"transcript": "ENST00000852905.1",
"protein_id": "ENSP00000522964.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 590,
"cds_start": 1600,
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{
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],
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"dbsnp": "rs772026265",
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001244710.2",
"gene_symbol": "GFPT1",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1927A>G",
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}
],
"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
}