← 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: 19-5657242-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5657242&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SAFB",
"hgnc_id": 10520,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001201338.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 61,
"alphamissense_prediction": null,
"alphamissense_score": 0.0633,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.024785339832305908,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 917,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 2754,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001201338.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000588852.2",
"protein_coding": true,
"protein_id": "NP_001188267.1",
"strand": true,
"transcript": "NM_001201338.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 917,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 2754,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000588852.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001201338.2",
"protein_coding": true,
"protein_id": "ENSP00000467423.1",
"strand": true,
"transcript": "ENST00000588852.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000592224.5",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464840.1",
"strand": true,
"transcript": "ENST00000592224.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000292123.9",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000292123.4",
"strand": true,
"transcript": "ENST00000292123.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 961,
"aa_ref": "A",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 2886,
"cds_start": 1889,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970177.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Ala630Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640236.1",
"strand": true,
"transcript": "ENST00000970177.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 960,
"aa_ref": "A",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 2883,
"cds_start": 1889,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000934691.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Ala630Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604750.1",
"strand": true,
"transcript": "ENST00000934691.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 959,
"aa_ref": "A",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2880,
"cds_start": 1889,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970185.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1889C>T",
"hgvs_p": "p.Ala630Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640244.1",
"strand": true,
"transcript": "ENST00000970185.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 949,
"aa_ref": "A",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 1942,
"cds_end": null,
"cds_length": 2850,
"cds_start": 1856,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000880699.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ala619Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550758.1",
"strand": true,
"transcript": "ENST00000880699.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 948,
"aa_ref": "A",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 2847,
"cds_start": 1856,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970182.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ala619Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640241.1",
"strand": true,
"transcript": "ENST00000970182.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001201339.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188268.1",
"strand": true,
"transcript": "NM_001201339.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 1875,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1754,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934687.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Ala585Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604746.1",
"strand": true,
"transcript": "ENST00000934687.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 2751,
"cds_start": 1754,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970175.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Ala585Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640234.1",
"strand": true,
"transcript": "ENST00000970175.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_002967.4",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002958.2",
"strand": true,
"transcript": "NM_002967.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 2748,
"cds_start": 1754,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970176.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Ala585Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640235.1",
"strand": true,
"transcript": "ENST00000970176.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 914,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001320572.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307501.1",
"strand": true,
"transcript": "NM_001320572.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 914,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000880693.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550752.1",
"strand": true,
"transcript": "ENST00000880693.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 914,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934690.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604749.1",
"strand": true,
"transcript": "ENST00000934690.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 914,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1754,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970178.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Ala585Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640237.1",
"strand": true,
"transcript": "ENST00000970178.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 914,
"aa_ref": "A",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2745,
"cds_start": 1754,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970188.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Ala585Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640247.1",
"strand": true,
"transcript": "ENST00000970188.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 913,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 2742,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970173.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640232.1",
"strand": true,
"transcript": "ENST00000970173.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 909,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970187.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640246.1",
"strand": true,
"transcript": "ENST00000970187.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 906,
"aa_ref": "A",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1724,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970180.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Ala575Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640239.1",
"strand": true,
"transcript": "ENST00000970180.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 897,
"aa_ref": "A",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2694,
"cds_start": 1697,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000934688.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1697C>T",
"hgvs_p": "p.Ala566Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604747.1",
"strand": true,
"transcript": "ENST00000934688.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 870,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970179.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640238.1",
"strand": true,
"transcript": "ENST00000970179.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 867,
"aa_ref": "A",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 2604,
"cds_start": 1607,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970183.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Ala536Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640242.1",
"strand": true,
"transcript": "ENST00000970183.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 865,
"aa_ref": "A",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1607,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000880698.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Ala536Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550757.1",
"strand": true,
"transcript": "ENST00000880698.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 848,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001201340.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Ala517Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188269.1",
"strand": true,
"transcript": "NM_001201340.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 848,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000454510.5",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Ala517Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415895.1",
"strand": true,
"transcript": "ENST00000454510.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 847,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000880697.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Ala517Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550756.1",
"strand": true,
"transcript": "ENST00000880697.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 846,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 2541,
"cds_start": 1550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970174.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Ala517Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640233.1",
"strand": true,
"transcript": "ENST00000970174.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 845,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 2538,
"cds_start": 1550,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000880696.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Ala517Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550755.1",
"strand": true,
"transcript": "ENST00000880696.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000880694.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550753.1",
"strand": true,
"transcript": "ENST00000880694.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 818,
"aa_ref": "A",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1757,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000880700.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Ala586Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550759.1",
"strand": true,
"transcript": "ENST00000880700.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 762,
"aa_ref": "A",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1295,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000970186.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1295C>T",
"hgvs_p": "p.Ala432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640245.1",
"strand": true,
"transcript": "ENST00000970186.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 759,
"aa_ref": "A",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1286,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001320571.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Ala429Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307500.1",
"strand": true,
"transcript": "NM_001320571.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 715,
"aa_ref": "A",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1151,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000970184.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640243.1",
"strand": true,
"transcript": "ENST00000970184.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 714,
"aa_ref": "A",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1151,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000970172.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640231.1",
"strand": true,
"transcript": "ENST00000970172.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 609,
"aa_ref": "A",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1830,
"cds_start": 833,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880695.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Ala278Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550754.1",
"strand": true,
"transcript": "ENST00000880695.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1827,
"cds_start": 833,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000970181.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Ala278Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640240.1",
"strand": true,
"transcript": "ENST00000970181.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 607,
"aa_ref": "A",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1824,
"cds_start": 833,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934689.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Ala278Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604748.1",
"strand": true,
"transcript": "ENST00000934689.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 760,
"aa_ref": "A",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1286,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017027114.2",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Ala429Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882603.1",
"strand": true,
"transcript": "XM_017027114.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000589863.5",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "n.*1164C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468543.1",
"strand": true,
"transcript": "ENST00000589863.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000589863.5",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "n.*1164C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468543.1",
"strand": true,
"transcript": "ENST00000589863.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 152,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 459,
"cdna_start": null,
"cds_end": null,
"cds_length": 459,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589006.1",
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"hgvs_c": "c.-83C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464758.1",
"strand": true,
"transcript": "ENST00000589006.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.00000883036410514869,
"dbsnp": "rs199781913",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.000037818107,
"gene_hgnc_id": 10520,
"gene_symbol": "SAFB",
"gnomad_exomes_ac": 54,
"gnomad_exomes_af": 0.0000369653,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000460054,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.111,
"pos": 5657242,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.041,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.04399999976158142,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001201338.2"
}
]
}