← 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: 7-1744672-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1744672&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELFN1",
"hgnc_id": 33154,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001128636.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 4935,
"alphamissense_prediction": null,
"alphamissense_score": 0.2014,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "ELFN1-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.018013089895248413,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 702,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001128636.4",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424383.5",
"protein_coding": true,
"protein_id": "NP_001122108.1",
"strand": true,
"transcript": "NM_001128636.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 702,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000424383.5",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128636.4",
"protein_coding": true,
"protein_id": "ENSP00000456548.1",
"strand": true,
"transcript": "ENST00000424383.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 609,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001394187.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381116.1",
"strand": true,
"transcript": "NM_001394187.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4005,
"cdna_start": 731,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394188.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381117.1",
"strand": true,
"transcript": "NM_001394188.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 954,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000561626.4",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457193.1",
"strand": true,
"transcript": "ENST00000561626.4",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 635,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000691883.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510296.1",
"strand": true,
"transcript": "ENST00000691883.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 888,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853552.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523611.1",
"strand": true,
"transcript": "ENST00000853552.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 759,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853553.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523612.1",
"strand": true,
"transcript": "ENST00000853553.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 711,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853554.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523613.1",
"strand": true,
"transcript": "ENST00000853554.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 590,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853555.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523614.1",
"strand": true,
"transcript": "ENST00000853555.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853556.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523615.1",
"strand": true,
"transcript": "ENST00000853556.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4041,
"cdna_start": 813,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853557.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523616.1",
"strand": true,
"transcript": "ENST00000853557.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": 681,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853558.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523617.1",
"strand": true,
"transcript": "ENST00000853558.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3690,
"cdna_start": 429,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853559.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523618.1",
"strand": true,
"transcript": "ENST00000853559.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4204,
"cdna_start": 993,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853560.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523619.1",
"strand": true,
"transcript": "ENST00000853560.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 847,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853561.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523620.1",
"strand": true,
"transcript": "ENST00000853561.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 808,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853562.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523621.1",
"strand": true,
"transcript": "ENST00000853562.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 588,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853563.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523622.1",
"strand": true,
"transcript": "ENST00000853563.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3932,
"cdna_start": 690,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853564.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523623.1",
"strand": true,
"transcript": "ENST00000853564.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4104,
"cdna_start": 917,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853565.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523624.1",
"strand": true,
"transcript": "ENST00000853565.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 670,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853566.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523625.1",
"strand": true,
"transcript": "ENST00000853566.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 682,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936129.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606188.1",
"strand": true,
"transcript": "ENST00000936129.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3898,
"cdna_start": 624,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000936130.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606189.1",
"strand": true,
"transcript": "ENST00000936130.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 638,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006715725.4",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715788.1",
"strand": true,
"transcript": "XM_006715725.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 871,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006715727.4",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715790.1",
"strand": true,
"transcript": "XM_006715727.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 754,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011515398.3",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513700.1",
"strand": true,
"transcript": "XM_011515398.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 832,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011515401.3",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513703.1",
"strand": true,
"transcript": "XM_011515401.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 847,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420362.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276318.1",
"strand": true,
"transcript": "XM_047420362.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 828,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5803,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2487,
"cds_start": 76,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047420363.1",
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276319.1",
"strand": true,
"transcript": "XM_047420363.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs370941771",
"effect": "missense_variant",
"frequency_reference_population": 0.0031819576,
"gene_hgnc_id": 33154,
"gene_symbol": "ELFN1",
"gnomad_exomes_ac": 4611,
"gnomad_exomes_af": 0.00329622,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_ac": 324,
"gnomad_genomes_af": 0.00213077,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 14,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided|ELFN1-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.883,
"pos": 1744672,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001128636.4"
}
]
}