← 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: 20-3227839-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3227839&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC4A11",
"hgnc_id": 16438,
"hgvs_c": "c.2705G>C",
"hgvs_p": "p.Arg902Pro",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001174090.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4988,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6689819693565369,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001174089.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2576G>C",
"hgvs_p": "p.Arg859Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642402.1",
"protein_coding": true,
"protein_id": "NP_001167560.1",
"strand": false,
"transcript": "NM_001174089.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000642402.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2576G>C",
"hgvs_p": "p.Arg859Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001174089.2",
"protein_coding": true,
"protein_id": "ENSP00000493503.1",
"strand": false,
"transcript": "ENST00000642402.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 2672,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000380056.7",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2624G>C",
"hgvs_p": "p.Arg875Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369396.3",
"strand": false,
"transcript": "ENST00000380056.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2705,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001174090.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2705G>C",
"hgvs_p": "p.Arg902Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167561.1",
"strand": false,
"transcript": "NM_001174090.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2705,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000380059.7",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2705G>C",
"hgvs_p": "p.Arg902Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369399.3",
"strand": false,
"transcript": "ENST00000380059.7",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 2672,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_032034.4",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2624G>C",
"hgvs_p": "p.Arg875Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_114423.1",
"strand": false,
"transcript": "NM_032034.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 880,
"aa_ref": "R",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2591,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001400280.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2591G>C",
"hgvs_p": "p.Arg864Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387209.1",
"strand": false,
"transcript": "NM_001400280.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 873,
"aa_ref": "R",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000925552.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2570G>C",
"hgvs_p": "p.Arg857Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595611.1",
"strand": false,
"transcript": "ENST00000925552.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 2745,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2519,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001400277.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2519G>C",
"hgvs_p": "p.Arg840Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387206.1",
"strand": false,
"transcript": "NM_001400277.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2519,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001400278.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2519G>C",
"hgvs_p": "p.Arg840Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387207.1",
"strand": false,
"transcript": "NM_001400278.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2519,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001400279.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2519G>C",
"hgvs_p": "p.Arg840Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387208.1",
"strand": false,
"transcript": "NM_001400279.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2507,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000644011.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2507G>C",
"hgvs_p": "p.Arg836Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496214.1",
"strand": false,
"transcript": "ENST00000644011.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2504,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000876657.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2504G>C",
"hgvs_p": "p.Arg835Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546716.1",
"strand": false,
"transcript": "ENST00000876657.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2577,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2504,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000925551.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2504G>C",
"hgvs_p": "p.Arg835Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595610.1",
"strand": false,
"transcript": "ENST00000925551.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 850,
"aa_ref": "R",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2501,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000876658.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2501G>C",
"hgvs_p": "p.Arg834Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546717.1",
"strand": false,
"transcript": "ENST00000876658.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 837,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001363745.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2462G>C",
"hgvs_p": "p.Arg821Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350674.1",
"strand": false,
"transcript": "NM_001363745.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 837,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000647296.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2462G>C",
"hgvs_p": "p.Arg821Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495050.1",
"strand": false,
"transcript": "ENST00000647296.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 835,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 2542,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000876659.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2456G>C",
"hgvs_p": "p.Arg819Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546718.1",
"strand": false,
"transcript": "ENST00000876659.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 827,
"aa_ref": "R",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 2875,
"cds_end": null,
"cds_length": 2484,
"cds_start": 2432,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925550.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2432G>C",
"hgvs_p": "p.Arg811Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595609.1",
"strand": false,
"transcript": "ENST00000925550.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 808,
"aa_ref": "R",
"aa_start": 792,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2375,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000644692.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2375G>C",
"hgvs_p": "p.Arg792Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493824.1",
"strand": false,
"transcript": "ENST00000644692.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 891,
"aa_ref": "R",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 3084,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047440540.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2624G>C",
"hgvs_p": "p.Arg875Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296496.1",
"strand": false,
"transcript": "XM_047440540.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 878,
"aa_ref": "R",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 2710,
"cds_end": null,
"cds_length": 2637,
"cds_start": 2585,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017028093.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2585G>C",
"hgvs_p": "p.Arg862Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883582.2",
"strand": false,
"transcript": "XM_017028093.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2519,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017028094.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2519G>C",
"hgvs_p": "p.Arg840Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883583.1",
"strand": false,
"transcript": "XM_017028094.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2780,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2519,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_017028096.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2519G>C",
"hgvs_p": "p.Arg840Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883585.1",
"strand": false,
"transcript": "XM_017028096.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 835,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047440542.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2456G>C",
"hgvs_p": "p.Arg819Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296498.1",
"strand": false,
"transcript": "XM_047440542.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 818,
"aa_ref": "R",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2405,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047440543.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2405G>C",
"hgvs_p": "p.Arg802Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296499.1",
"strand": false,
"transcript": "XM_047440543.1",
"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": 3015,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000474451.5",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "n.*724G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476859.1",
"strand": false,
"transcript": "ENST00000474451.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NR_135000.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "n.2674G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135000.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NR_174470.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "n.3099G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_174470.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NR_174471.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "n.3084G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_174471.1",
"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": 3015,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000474451.5",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "n.*724G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476859.1",
"strand": false,
"transcript": "ENST00000474451.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs751709036",
"effect": "missense_variant",
"frequency_reference_population": 6.8455546e-7,
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84555e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": 0.293,
"pos": 3227839,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.571,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001174090.2"
}
]
}