← 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: 14-67113103-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67113103&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67113103,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000478722.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1558A>T",
"hgvs_p": "p.Thr520Ser",
"transcript": "NM_020806.5",
"protein_id": "NP_065857.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 769,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "ENST00000478722.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1558A>T",
"hgvs_p": "p.Thr520Ser",
"transcript": "ENST00000478722.6",
"protein_id": "ENSP00000417901.1",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 769,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "NM_020806.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1459A>T",
"hgvs_p": "p.Thr487Ser",
"transcript": "ENST00000315266.9",
"protein_id": "ENSP00000312771.5",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 736,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1618A>T",
"hgvs_p": "p.Thr540Ser",
"transcript": "NM_001377514.1",
"protein_id": "NP_001364443.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 789,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1597A>T",
"hgvs_p": "p.Thr533Ser",
"transcript": "ENST00000543237.5",
"protein_id": "ENSP00000438404.1",
"transcript_support_level": 2,
"aa_start": 533,
"aa_end": null,
"aa_length": 782,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1588A>T",
"hgvs_p": "p.Thr530Ser",
"transcript": "NM_001377515.1",
"protein_id": "NP_001364444.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 779,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1579A>T",
"hgvs_p": "p.Thr527Ser",
"transcript": "NM_001377516.1",
"protein_id": "NP_001364445.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 776,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1531A>T",
"hgvs_p": "p.Thr511Ser",
"transcript": "NM_001377517.1",
"protein_id": "NP_001364446.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 760,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1516A>T",
"hgvs_p": "p.Thr506Ser",
"transcript": "NM_001377518.1",
"protein_id": "NP_001364447.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 755,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1498A>T",
"hgvs_p": "p.Thr500Ser",
"transcript": "NM_001377519.1",
"protein_id": "NP_001364448.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 749,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1459A>T",
"hgvs_p": "p.Thr487Ser",
"transcript": "NM_001024218.2",
"protein_id": "NP_001019389.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 736,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.34A>T",
"hgvs_p": "p.Thr12Ser",
"transcript": "ENST00000555503.1",
"protein_id": "ENSP00000452009.1",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 201,
"cds_start": 34,
"cds_end": null,
"cds_length": 606,
"cdna_start": 34,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1726A>T",
"hgvs_p": "p.Thr576Ser",
"transcript": "XM_011536340.4",
"protein_id": "XP_011534642.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 825,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1717A>T",
"hgvs_p": "p.Thr573Ser",
"transcript": "XM_017020913.3",
"protein_id": "XP_016876402.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 822,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1687A>T",
"hgvs_p": "p.Thr563Ser",
"transcript": "XM_011536342.4",
"protein_id": "XP_011534644.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 812,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "XM_017020914.3",
"protein_id": "XP_016876403.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 806,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Thr552Ser",
"transcript": "XM_011536343.4",
"protein_id": "XP_011534645.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 801,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1630A>T",
"hgvs_p": "p.Thr544Ser",
"transcript": "XM_047430875.1",
"protein_id": "XP_047286831.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 793,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1627A>T",
"hgvs_p": "p.Thr543Ser",
"transcript": "XM_011536344.4",
"protein_id": "XP_011534646.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 792,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1615A>T",
"hgvs_p": "p.Thr539Ser",
"transcript": "XM_047430876.1",
"protein_id": "XP_047286832.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 788,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1597A>T",
"hgvs_p": "p.Thr533Ser",
"transcript": "XM_011536345.4",
"protein_id": "XP_011534647.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 782,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1570A>T",
"hgvs_p": "p.Thr524Ser",
"transcript": "XM_017020917.3",
"protein_id": "XP_016876406.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 773,
"cds_start": 1570,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1951,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1555A>T",
"hgvs_p": "p.Thr519Ser",
"transcript": "XM_017020918.3",
"protein_id": "XP_016876407.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 768,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.709A>T",
"hgvs_p": "p.Thr237Ser",
"transcript": "XM_047430877.1",
"protein_id": "XP_047286833.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 486,
"cds_start": 709,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.709A>T",
"hgvs_p": "p.Thr237Ser",
"transcript": "XM_047430878.1",
"protein_id": "XP_047286834.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 486,
"cds_start": 709,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.637A>T",
"hgvs_p": "p.Thr213Ser",
"transcript": "XM_047430880.1",
"protein_id": "XP_047286836.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 462,
"cds_start": 637,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "n.1606A>T",
"hgvs_p": null,
"transcript": "ENST00000544752.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "n.91A>T",
"hgvs_p": null,
"transcript": "ENST00000555527.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307479",
"gene_hgnc_id": null,
"hgvs_c": "n.192-4641T>A",
"hgvs_p": null,
"transcript": "ENST00000826515.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1312+54317A>T",
"hgvs_p": null,
"transcript": "XM_047430879.1",
"protein_id": "XP_047286835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105370538",
"gene_hgnc_id": null,
"hgvs_c": "n.224-4641T>A",
"hgvs_p": null,
"transcript": "XR_001750990.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105370538",
"gene_hgnc_id": null,
"hgvs_c": "n.224-4641T>A",
"hgvs_p": null,
"transcript": "XR_007064215.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"dbsnp": "rs749747472",
"frequency_reference_population": 0.000005473716,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547372,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29481828212738037,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.8804,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.27,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000478722.6",
"gene_symbol": "GPHN",
"hgnc_id": 15465,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1558A>T",
"hgvs_p": "p.Thr520Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000826515.1",
"gene_symbol": "ENSG00000307479",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.192-4641T>A",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001750990.2",
"gene_symbol": "LOC105370538",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.224-4641T>A",
"hgvs_p": null
}
],
"clinvar_disease": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}