← 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: 6-138424250-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138424250&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NHSL1",
"hgnc_id": 21021,
"hgvs_c": "c.4664C>T",
"hgvs_p": "p.Ser1555Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_020464.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 39,
"alphamissense_prediction": null,
"alphamissense_score": 0.1109,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.019733786582946777,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "S",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7063,
"cdna_start": 4856,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4652,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001144060.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4652C>T",
"hgvs_p": "p.Ser1551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343505.10",
"protein_coding": true,
"protein_id": "NP_001137532.1",
"strand": false,
"transcript": "NM_001144060.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "S",
"aa_start": 1551,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7063,
"cdna_start": 4856,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4652,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000343505.10",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4652C>T",
"hgvs_p": "p.Ser1551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144060.2",
"protein_coding": true,
"protein_id": "ENSP00000344672.5",
"strand": false,
"transcript": "ENST00000343505.10",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "S",
"aa_start": 1628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7579,
"cdna_start": 5372,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4883,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000491526.7",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4883C>T",
"hgvs_p": "p.Ser1628Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433523.2",
"strand": false,
"transcript": "ENST00000491526.7",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7529,
"cdna_start": 5322,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4664,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020464.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4664C>T",
"hgvs_p": "p.Ser1555Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065197.1",
"strand": false,
"transcript": "NM_020464.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7500,
"cdna_start": 5293,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4664,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000427025.6",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4664C>T",
"hgvs_p": "p.Ser1555Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394546.2",
"strand": false,
"transcript": "ENST00000427025.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1646,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7592,
"cdna_start": 5385,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4937,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535976.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4937C>T",
"hgvs_p": "p.Ser1646Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534278.2",
"strand": false,
"transcript": "XM_011535976.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "S",
"aa_start": 1628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7538,
"cdna_start": 5331,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4883,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419109.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4883C>T",
"hgvs_p": "p.Ser1628Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275065.1",
"strand": false,
"transcript": "XM_047419109.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "S",
"aa_start": 1617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7391,
"cdna_start": 5184,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4850,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011535966.4",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4850C>T",
"hgvs_p": "p.Ser1617Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534268.1",
"strand": false,
"transcript": "XM_011535966.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "S",
"aa_start": 1617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": 5128,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4850,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011535967.4",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4850C>T",
"hgvs_p": "p.Ser1617Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534269.1",
"strand": false,
"transcript": "XM_011535967.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "S",
"aa_start": 1617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7301,
"cdna_start": 5094,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4850,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017011086.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4850C>T",
"hgvs_p": "p.Ser1617Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866575.1",
"strand": false,
"transcript": "XM_017011086.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1657,
"aa_ref": "S",
"aa_start": 1602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7460,
"cdna_start": 5253,
"cds_end": null,
"cds_length": 4974,
"cds_start": 4805,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419110.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4805C>T",
"hgvs_p": "p.Ser1602Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275066.1",
"strand": false,
"transcript": "XM_047419110.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1654,
"aa_ref": "S",
"aa_start": 1599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7337,
"cdna_start": 5130,
"cds_end": null,
"cds_length": 4965,
"cds_start": 4796,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047419111.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4796C>T",
"hgvs_p": "p.Ser1599Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275067.1",
"strand": false,
"transcript": "XM_047419111.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1654,
"aa_ref": "S",
"aa_start": 1599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7281,
"cdna_start": 5074,
"cds_end": null,
"cds_length": 4965,
"cds_start": 4796,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047419112.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4796C>T",
"hgvs_p": "p.Ser1599Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275068.1",
"strand": false,
"transcript": "XM_047419112.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1639,
"aa_ref": "S",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7406,
"cdna_start": 5199,
"cds_end": null,
"cds_length": 4920,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419113.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4751C>T",
"hgvs_p": "p.Ser1584Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275069.1",
"strand": false,
"transcript": "XM_047419113.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1637,
"aa_ref": "S",
"aa_start": 1582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7949,
"cdna_start": 5742,
"cds_end": null,
"cds_length": 4914,
"cds_start": 4745,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017011087.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4745C>T",
"hgvs_p": "p.Ser1582Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866576.1",
"strand": false,
"transcript": "XM_017011087.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1625,
"aa_ref": "S",
"aa_start": 1570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7072,
"cdna_start": 4865,
"cds_end": null,
"cds_length": 4878,
"cds_start": 4709,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535969.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4709C>T",
"hgvs_p": "p.Ser1570Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534271.1",
"strand": false,
"transcript": "XM_011535969.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "S",
"aa_start": 1569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7117,
"cdna_start": 4910,
"cds_end": null,
"cds_length": 4875,
"cds_start": 4706,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535970.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4706C>T",
"hgvs_p": "p.Ser1569Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534272.1",
"strand": false,
"transcript": "XM_011535970.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "S",
"aa_start": 1567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14050,
"cdna_start": 11843,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4700,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017011088.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4700C>T",
"hgvs_p": "p.Ser1567Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866577.1",
"strand": false,
"transcript": "XM_017011088.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1619,
"aa_ref": "S",
"aa_start": 1564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7895,
"cdna_start": 5688,
"cds_end": null,
"cds_length": 4860,
"cds_start": 4691,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419114.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4691C>T",
"hgvs_p": "p.Ser1564Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275070.1",
"strand": false,
"transcript": "XM_047419114.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1618,
"aa_ref": "S",
"aa_start": 1563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13293,
"cdna_start": 11086,
"cds_end": null,
"cds_length": 4857,
"cds_start": 4688,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011535971.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4688C>T",
"hgvs_p": "p.Ser1563Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534273.1",
"strand": false,
"transcript": "XM_011535971.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6968,
"cdna_start": 4761,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4664,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535972.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4664C>T",
"hgvs_p": "p.Ser1555Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534274.1",
"strand": false,
"transcript": "XM_011535972.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "S",
"aa_start": 1555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7149,
"cdna_start": 4942,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4664,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419115.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4664C>T",
"hgvs_p": "p.Ser1555Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275071.1",
"strand": false,
"transcript": "XM_047419115.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "S",
"aa_start": 1552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7018,
"cdna_start": 4811,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4655,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011535973.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4655C>T",
"hgvs_p": "p.Ser1552Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534275.1",
"strand": false,
"transcript": "XM_011535973.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "S",
"aa_start": 1552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8310,
"cdna_start": 6103,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4655,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535974.4",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4655C>T",
"hgvs_p": "p.Ser1552Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534276.1",
"strand": false,
"transcript": "XM_011535974.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1592,
"aa_ref": "S",
"aa_start": 1537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6914,
"cdna_start": 4707,
"cds_end": null,
"cds_length": 4779,
"cds_start": 4610,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017011089.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4610C>T",
"hgvs_p": "p.Ser1537Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866578.1",
"strand": false,
"transcript": "XM_017011089.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1575,
"aa_ref": "S",
"aa_start": 1520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7763,
"cdna_start": 5556,
"cds_end": null,
"cds_length": 4728,
"cds_start": 4559,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419116.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4559C>T",
"hgvs_p": "p.Ser1520Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275072.1",
"strand": false,
"transcript": "XM_047419116.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "S",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6931,
"cdna_start": 4724,
"cds_end": null,
"cds_length": 4689,
"cds_start": 4520,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419117.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4520C>T",
"hgvs_p": "p.Ser1507Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275073.1",
"strand": false,
"transcript": "XM_047419117.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "S",
"aa_start": 1493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6782,
"cdna_start": 4575,
"cds_end": null,
"cds_length": 4647,
"cds_start": 4478,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419118.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4478C>T",
"hgvs_p": "p.Ser1493Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275074.1",
"strand": false,
"transcript": "XM_047419118.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1548,
"aa_ref": "S",
"aa_start": 1493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7063,
"cdna_start": 4856,
"cds_end": null,
"cds_length": 4647,
"cds_start": 4478,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047419119.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4478C>T",
"hgvs_p": "p.Ser1493Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275075.1",
"strand": false,
"transcript": "XM_047419119.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs552879039",
"effect": "missense_variant",
"frequency_reference_population": 0.00002590013,
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"gnomad_exomes_ac": 33,
"gnomad_exomes_af": 0.0000243807,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 6,
"gnomad_genomes_af": 0.0000394078,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.837,
"pos": 138424250,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.03,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020464.2"
}
]
}