← 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: 6-138429750-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138429750&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138429750,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020464.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4046G>T",
"hgvs_p": "p.Arg1349Leu",
"transcript": "NM_001144060.2",
"protein_id": "NP_001137532.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4046,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343505.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144060.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4046G>T",
"hgvs_p": "p.Arg1349Leu",
"transcript": "ENST00000343505.10",
"protein_id": "ENSP00000344672.5",
"transcript_support_level": 5,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4046,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144060.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343505.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4277G>T",
"hgvs_p": "p.Arg1426Leu",
"transcript": "ENST00000491526.7",
"protein_id": "ENSP00000433523.2",
"transcript_support_level": 3,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4277,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491526.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4058G>T",
"hgvs_p": "p.Arg1353Leu",
"transcript": "NM_020464.2",
"protein_id": "NP_065197.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020464.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4058G>T",
"hgvs_p": "p.Arg1353Leu",
"transcript": "ENST00000427025.6",
"protein_id": "ENSP00000394546.2",
"transcript_support_level": 5,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427025.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4331G>T",
"hgvs_p": "p.Arg1444Leu",
"transcript": "XM_011535976.2",
"protein_id": "XP_011534278.2",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1701,
"cds_start": 4331,
"cds_end": null,
"cds_length": 5106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535976.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4277G>T",
"hgvs_p": "p.Arg1426Leu",
"transcript": "XM_047419109.1",
"protein_id": "XP_047275065.1",
"transcript_support_level": null,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4277,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419109.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4244G>T",
"hgvs_p": "p.Arg1415Leu",
"transcript": "XM_011535966.4",
"protein_id": "XP_011534268.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4244,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535966.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4244G>T",
"hgvs_p": "p.Arg1415Leu",
"transcript": "XM_011535967.4",
"protein_id": "XP_011534269.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4244,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535967.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4244G>T",
"hgvs_p": "p.Arg1415Leu",
"transcript": "XM_017011086.3",
"protein_id": "XP_016866575.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4244,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011086.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4199G>T",
"hgvs_p": "p.Arg1400Leu",
"transcript": "XM_047419110.1",
"protein_id": "XP_047275066.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4199,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419110.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4190G>T",
"hgvs_p": "p.Arg1397Leu",
"transcript": "XM_047419111.1",
"protein_id": "XP_047275067.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4190,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419111.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4190G>T",
"hgvs_p": "p.Arg1397Leu",
"transcript": "XM_047419112.1",
"protein_id": "XP_047275068.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4190,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419112.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4145G>T",
"hgvs_p": "p.Arg1382Leu",
"transcript": "XM_047419113.1",
"protein_id": "XP_047275069.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4145,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419113.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4139G>T",
"hgvs_p": "p.Arg1380Leu",
"transcript": "XM_017011087.1",
"protein_id": "XP_016866576.1",
"transcript_support_level": null,
"aa_start": 1380,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4139,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011087.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4103G>T",
"hgvs_p": "p.Arg1368Leu",
"transcript": "XM_011535969.3",
"protein_id": "XP_011534271.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1625,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535969.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4100G>T",
"hgvs_p": "p.Arg1367Leu",
"transcript": "XM_011535970.3",
"protein_id": "XP_011534272.1",
"transcript_support_level": null,
"aa_start": 1367,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4100,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535970.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4094G>T",
"hgvs_p": "p.Arg1365Leu",
"transcript": "XM_017011088.2",
"protein_id": "XP_016866577.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011088.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4085G>T",
"hgvs_p": "p.Arg1362Leu",
"transcript": "XM_047419114.1",
"protein_id": "XP_047275070.1",
"transcript_support_level": null,
"aa_start": 1362,
"aa_end": null,
"aa_length": 1619,
"cds_start": 4085,
"cds_end": null,
"cds_length": 4860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419114.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4082G>T",
"hgvs_p": "p.Arg1361Leu",
"transcript": "XM_011535971.3",
"protein_id": "XP_011534273.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4082,
"cds_end": null,
"cds_length": 4857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535971.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4058G>T",
"hgvs_p": "p.Arg1353Leu",
"transcript": "XM_011535972.3",
"protein_id": "XP_011534274.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535972.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4058G>T",
"hgvs_p": "p.Arg1353Leu",
"transcript": "XM_047419115.1",
"protein_id": "XP_047275071.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4058,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419115.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4049G>T",
"hgvs_p": "p.Arg1350Leu",
"transcript": "XM_011535973.3",
"protein_id": "XP_011534275.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1607,
"cds_start": 4049,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535973.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4049G>T",
"hgvs_p": "p.Arg1350Leu",
"transcript": "XM_011535974.4",
"protein_id": "XP_011534276.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1607,
"cds_start": 4049,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535974.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4004G>T",
"hgvs_p": "p.Arg1335Leu",
"transcript": "XM_017011089.2",
"protein_id": "XP_016866578.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1592,
"cds_start": 4004,
"cds_end": null,
"cds_length": 4779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011089.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.3953G>T",
"hgvs_p": "p.Arg1318Leu",
"transcript": "XM_047419116.1",
"protein_id": "XP_047275072.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1575,
"cds_start": 3953,
"cds_end": null,
"cds_length": 4728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419116.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.3914G>T",
"hgvs_p": "p.Arg1305Leu",
"transcript": "XM_047419117.1",
"protein_id": "XP_047275073.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1562,
"cds_start": 3914,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419117.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.3872G>T",
"hgvs_p": "p.Arg1291Leu",
"transcript": "XM_047419118.1",
"protein_id": "XP_047275074.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3872,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419118.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.3872G>T",
"hgvs_p": "p.Arg1291Leu",
"transcript": "XM_047419119.1",
"protein_id": "XP_047275075.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3872,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419119.1"
}
],
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"dbsnp": "rs1240970495",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37932103872299194,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.392,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.63,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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_020464.2",
"gene_symbol": "NHSL1",
"hgnc_id": 21021,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4058G>T",
"hgvs_p": "p.Arg1353Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}