← 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: 1-41028206-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=41028206&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 41028206,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001394311.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "NM_001394311.1",
"protein_id": "NP_001381240.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 670,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2366,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": "ENST00000695335.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "ENST00000695335.1",
"protein_id": "ENSP00000511813.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 670,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2366,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": "NM_001394311.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1971G>C",
"hgvs_p": "p.Gln657His",
"transcript": "ENST00000326197.11",
"protein_id": "ENSP00000318094.7",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 660,
"cds_start": 1971,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2271,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Gln596His",
"transcript": "ENST00000372595.5",
"protein_id": "ENSP00000361676.1",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 599,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1764G>C",
"hgvs_p": "p.Gln588His",
"transcript": "ENST00000372597.5",
"protein_id": "ENSP00000361678.1",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 591,
"cds_start": 1764,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1722G>C",
"hgvs_p": "p.Gln574His",
"transcript": "ENST00000372596.5",
"protein_id": "ENSP00000361677.1",
"transcript_support_level": 1,
"aa_start": 574,
"aa_end": null,
"aa_length": 577,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLFNL1-AS1",
"gene_hgnc_id": 44126,
"hgvs_c": "n.3813-327C>G",
"hgvs_p": null,
"transcript": "ENST00000626479.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "ENST00000850938.1",
"protein_id": "ENSP00000521019.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 670,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1971G>C",
"hgvs_p": "p.Gln657His",
"transcript": "NM_001031694.3",
"protein_id": "NP_001026864.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 660,
"cds_start": 1971,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1971G>C",
"hgvs_p": "p.Gln657His",
"transcript": "NM_001394300.1",
"protein_id": "NP_001381229.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 660,
"cds_start": 1971,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2919,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1971G>C",
"hgvs_p": "p.Gln657His",
"transcript": "NM_001394301.1",
"protein_id": "NP_001381230.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 660,
"cds_start": 1971,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2789,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1971G>C",
"hgvs_p": "p.Gln657His",
"transcript": "NM_001394302.1",
"protein_id": "NP_001381231.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 660,
"cds_start": 1971,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1935G>C",
"hgvs_p": "p.Gln645His",
"transcript": "NM_001172219.2",
"protein_id": "NP_001165690.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 648,
"cds_start": 1935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1935G>C",
"hgvs_p": "p.Gln645His",
"transcript": "ENST00000337495.9",
"protein_id": "ENSP00000337352.5",
"transcript_support_level": 2,
"aa_start": 645,
"aa_end": null,
"aa_length": 648,
"cds_start": 1935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1905G>C",
"hgvs_p": "p.Gln635His",
"transcript": "NM_001394299.1",
"protein_id": "NP_001381228.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 638,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2853,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1905G>C",
"hgvs_p": "p.Gln635His",
"transcript": "NM_001394304.1",
"protein_id": "NP_001381233.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 638,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1905G>C",
"hgvs_p": "p.Gln635His",
"transcript": "NM_001394305.1",
"protein_id": "NP_001381234.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 638,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2729,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1905G>C",
"hgvs_p": "p.Gln635His",
"transcript": "NM_001394306.1",
"protein_id": "NP_001381235.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 638,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1830G>C",
"hgvs_p": "p.Gln610His",
"transcript": "NM_001394307.1",
"protein_id": "NP_001381236.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 613,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Gln596His",
"transcript": "NM_001172221.3",
"protein_id": "NP_001165692.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 599,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2567,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Gln596His",
"transcript": "NM_001394303.1",
"protein_id": "NP_001381232.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 599,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1764G>C",
"hgvs_p": "p.Gln588His",
"transcript": "NM_012236.4",
"protein_id": "NP_036368.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 591,
"cds_start": 1764,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1722G>C",
"hgvs_p": "p.Gln574His",
"transcript": "NM_001172218.2",
"protein_id": "NP_001165689.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 577,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1722G>C",
"hgvs_p": "p.Gln574His",
"transcript": "NM_001172220.2",
"protein_id": "NP_001165691.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 577,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1698G>C",
"hgvs_p": "p.Gln566His",
"transcript": "NM_001350667.2",
"protein_id": "NP_001337596.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 569,
"cds_start": 1698,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 2579,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1641G>C",
"hgvs_p": "p.Gln547His",
"transcript": "NM_001394308.1",
"protein_id": "NP_001381237.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 550,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1641G>C",
"hgvs_p": "p.Gln547His",
"transcript": "ENST00000695336.1",
"protein_id": "ENSP00000511814.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 550,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1467G>C",
"hgvs_p": "p.Gln489His",
"transcript": "NM_001394309.1",
"protein_id": "NP_001381238.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 492,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 2615,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1431G>C",
"hgvs_p": "p.Gln477His",
"transcript": "NM_001172222.3",
"protein_id": "NP_001165693.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 480,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1431G>C",
"hgvs_p": "p.Gln477His",
"transcript": "ENST00000456518.3",
"protein_id": "ENSP00000403974.2",
"transcript_support_level": 2,
"aa_start": 477,
"aa_end": null,
"aa_length": 480,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1401G>C",
"hgvs_p": "p.Gln467His",
"transcript": "NM_001350668.2",
"protein_id": "NP_001337597.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 470,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 2483,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.414G>C",
"hgvs_p": "p.Gln138His",
"transcript": "ENST00000472037.5",
"protein_id": "ENSP00000479881.1",
"transcript_support_level": 3,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 414,
"cds_end": null,
"cds_length": 426,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "XM_047449564.1",
"protein_id": "XP_047305520.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 670,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His",
"transcript": "XM_047449565.1",
"protein_id": "XP_047305521.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 670,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1971G>C",
"hgvs_p": "p.Gln657His",
"transcript": "XM_047449567.1",
"protein_id": "XP_047305523.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 660,
"cds_start": 1971,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2462,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1935G>C",
"hgvs_p": "p.Gln645His",
"transcript": "XM_047449568.1",
"protein_id": "XP_047305524.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 648,
"cds_start": 1935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1830G>C",
"hgvs_p": "p.Gln610His",
"transcript": "XM_047449577.1",
"protein_id": "XP_047305533.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 613,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Gln596His",
"transcript": "XM_047449578.1",
"protein_id": "XP_047305534.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 599,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2528,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Gln596His",
"transcript": "XM_047449583.1",
"protein_id": "XP_047305539.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 599,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1641G>C",
"hgvs_p": "p.Gln547His",
"transcript": "XM_047449589.1",
"protein_id": "XP_047305545.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 550,
"cds_start": 1641,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.1575G>C",
"hgvs_p": "p.Gln525His",
"transcript": "XM_047449591.1",
"protein_id": "XP_047305547.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 528,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "n.*2028G>C",
"hgvs_p": null,
"transcript": "ENST00000850937.1",
"protein_id": "ENSP00000521018.1",
"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": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "n.2772G>C",
"hgvs_p": null,
"transcript": "NR_135092.2",
"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": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "n.*2028G>C",
"hgvs_p": null,
"transcript": "ENST00000850937.1",
"protein_id": "ENSP00000521018.1",
"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": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"hgvs_c": "c.*154G>C",
"hgvs_p": null,
"transcript": "XM_011541034.2",
"protein_id": "XP_011539336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": -4,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLFNL1-AS1",
"gene_hgnc_id": 44126,
"hgvs_c": "n.3813-327C>G",
"hgvs_p": null,
"transcript": "NR_037868.1",
"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": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCMH1",
"gene_hgnc_id": 19003,
"dbsnp": "rs780195099",
"frequency_reference_population": 0.0000452279,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000465163,
"gnomad_genomes_af": 0.0000328524,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36882200837135315,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
"alphamissense_score": 0.1734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.22,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001394311.1",
"gene_symbol": "SCMH1",
"hgnc_id": 19003,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2001G>C",
"hgvs_p": "p.Gln667His"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000626479.1",
"gene_symbol": "SLFNL1-AS1",
"hgnc_id": 44126,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3813-327C>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
}