← 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: 17-1575683-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1575683&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC43A2",
"hgnc_id": 23087,
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001284498.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": 0.0704,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07005351781845093,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8133,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_152346.3",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301335.10",
"protein_coding": true,
"protein_id": "NP_689559.1",
"strand": false,
"transcript": "NM_152346.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8133,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000301335.10",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152346.3",
"protein_coding": true,
"protein_id": "ENSP00000301335.5",
"strand": false,
"transcript": "ENST00000301335.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000571650.5",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461382.1",
"strand": false,
"transcript": "ENST00000571650.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 596,
"aa_ref": "R",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3361,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000952273.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Arg571Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622332.1",
"strand": false,
"transcript": "ENST00000952273.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3851,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894524.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564583.1",
"strand": false,
"transcript": "ENST00000894524.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894529.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564588.1",
"strand": false,
"transcript": "ENST00000894529.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 585,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000894527.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564586.1",
"strand": false,
"transcript": "ENST00000894527.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 584,
"aa_ref": "R",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1676,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952275.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Arg559Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622334.1",
"strand": false,
"transcript": "ENST00000952275.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8440,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001284498.2",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271427.1",
"strand": false,
"transcript": "NM_001284498.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8145,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321364.2",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308293.1",
"strand": false,
"transcript": "NM_001321364.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8407,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321365.2",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308294.1",
"strand": false,
"transcript": "NM_001321365.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 2213,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952271.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622330.1",
"strand": false,
"transcript": "ENST00000952271.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3907,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000952272.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622331.1",
"strand": false,
"transcript": "ENST00000952272.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7195,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894522.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564581.1",
"strand": false,
"transcript": "ENST00000894522.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894523.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564582.1",
"strand": false,
"transcript": "ENST00000894523.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4095,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894525.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564584.1",
"strand": false,
"transcript": "ENST00000894525.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000894530.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564589.1",
"strand": false,
"transcript": "ENST00000894530.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3307,
"cdna_start": 2022,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000932309.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602368.1",
"strand": false,
"transcript": "ENST00000932309.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 569,
"aa_ref": "R",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000952274.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1631G>A",
"hgvs_p": "p.Arg544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622333.1",
"strand": false,
"transcript": "ENST00000952274.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1619,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894528.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1619G>A",
"hgvs_p": "p.Arg540Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564587.1",
"strand": false,
"transcript": "ENST00000894528.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 558,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000894526.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Arg533Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564585.1",
"strand": false,
"transcript": "ENST00000894526.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 538,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000894531.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1538G>A",
"hgvs_p": "p.Arg513Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564590.1",
"strand": false,
"transcript": "ENST00000894531.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000932308.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602367.1",
"strand": false,
"transcript": "ENST00000932308.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 432,
"aa_ref": "R",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7854,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1220,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001284499.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271428.1",
"strand": false,
"transcript": "NM_001284499.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 432,
"aa_ref": "R",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1220,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000412517.3",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408284.3",
"strand": false,
"transcript": "ENST00000412517.3",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 536,
"aa_ref": "R",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8382,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1532,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017024179.3",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Arg511Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879668.1",
"strand": false,
"transcript": "XM_017024179.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7939,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047435331.1",
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291287.1",
"strand": false,
"transcript": "XM_047435331.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs541726546",
"effect": "missense_variant",
"frequency_reference_population": 0.000016727712,
"gene_hgnc_id": 23087,
"gene_symbol": "SLC43A2",
"gnomad_exomes_ac": 26,
"gnomad_exomes_af": 0.0000177864,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656599,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.058,
"pos": 1575683,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.133,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001284498.2"
}
]
}