← 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: 3-27389997-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27389997&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 27389997,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000454389.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3294G>C",
"hgvs_p": "p.Gln1098His",
"transcript": "NM_001321103.2",
"protein_id": "NP_001308032.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "ENST00000454389.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3294G>C",
"hgvs_p": "p.Gln1098His",
"transcript": "ENST00000454389.6",
"protein_id": "ENSP00000390394.1",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": "NM_001321103.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3255G>C",
"hgvs_p": "p.Gln1085His",
"transcript": "ENST00000440156.5",
"protein_id": "ENSP00000414797.1",
"transcript_support_level": 1,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3255,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3476,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3267G>C",
"hgvs_p": "p.Gln1089His",
"transcript": "ENST00000295736.9",
"protein_id": "ENSP00000295736.5",
"transcript_support_level": 1,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3267,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3338,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3255G>C",
"hgvs_p": "p.Gln1085His",
"transcript": "ENST00000445684.5",
"protein_id": "ENSP00000406804.1",
"transcript_support_level": 1,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3255,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3525,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3243G>C",
"hgvs_p": "p.Gln1081His",
"transcript": "ENST00000446700.5",
"protein_id": "ENSP00000406605.1",
"transcript_support_level": 1,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3464,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Gln970His",
"transcript": "ENST00000455077.5",
"protein_id": "ENSP00000407382.1",
"transcript_support_level": 1,
"aa_start": 970,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3131,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Gln970His",
"transcript": "ENST00000437179.5",
"protein_id": "ENSP00000394252.1",
"transcript_support_level": 1,
"aa_start": 970,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3131,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2895G>C",
"hgvs_p": "p.Gln965His",
"transcript": "ENST00000428386.5",
"protein_id": "ENSP00000416368.1",
"transcript_support_level": 1,
"aa_start": 965,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2895,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.1920G>C",
"hgvs_p": "p.Gln640His",
"transcript": "ENST00000419036.5",
"protein_id": "ENSP00000411031.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 801,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1343G>C",
"hgvs_p": null,
"transcript": "ENST00000437266.5",
"protein_id": "ENSP00000409418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1343G>C",
"hgvs_p": null,
"transcript": "ENST00000438530.5",
"protein_id": "ENSP00000407304.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1343G>C",
"hgvs_p": null,
"transcript": "ENST00000457377.5",
"protein_id": "ENSP00000408323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1343G>C",
"hgvs_p": null,
"transcript": "ENST00000437266.5",
"protein_id": "ENSP00000409418.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1343G>C",
"hgvs_p": null,
"transcript": "ENST00000438530.5",
"protein_id": "ENSP00000407304.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.*1343G>C",
"hgvs_p": null,
"transcript": "ENST00000457377.5",
"protein_id": "ENSP00000408323.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3255G>C",
"hgvs_p": "p.Gln1085His",
"transcript": "NM_001321104.2",
"protein_id": "NP_001308033.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3255,
"cds_end": null,
"cds_length": 3741,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 8040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3267G>C",
"hgvs_p": "p.Gln1089His",
"transcript": "NM_003615.5",
"protein_id": "NP_003606.3",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1214,
"cds_start": 3267,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 3362,
"cdna_end": null,
"cdna_length": 7781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3255G>C",
"hgvs_p": "p.Gln1085His",
"transcript": "NM_001321105.2",
"protein_id": "NP_001308034.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3255,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 7932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3243G>C",
"hgvs_p": "p.Gln1081His",
"transcript": "NM_001321106.2",
"protein_id": "NP_001308035.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 3501,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2922G>C",
"hgvs_p": "p.Gln974His",
"transcript": "NM_001321108.2",
"protein_id": "NP_001308037.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Gln970His",
"transcript": "NM_001258379.2",
"protein_id": "NP_001245308.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1131,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 7695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2910G>C",
"hgvs_p": "p.Gln970His",
"transcript": "NM_001321107.2",
"protein_id": "NP_001308036.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2910,
"cds_end": null,
"cds_length": 3288,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 7587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2895G>C",
"hgvs_p": "p.Gln965His",
"transcript": "NM_001258380.2",
"protein_id": "NP_001245309.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1090,
"cds_start": 2895,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 7409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2955G>C",
"hgvs_p": "p.Gln985His",
"transcript": "ENST00000428179.1",
"protein_id": "ENSP00000388703.1",
"transcript_support_level": 5,
"aa_start": 985,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3282G>C",
"hgvs_p": "p.Gln1094His",
"transcript": "XM_006713421.4",
"protein_id": "XP_006713484.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3282,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 8067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3267G>C",
"hgvs_p": "p.Gln1089His",
"transcript": "XM_011534256.4",
"protein_id": "XP_011532558.1",
"transcript_support_level": null,
"aa_start": 1089,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3267,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 3362,
"cdna_end": null,
"cdna_length": 7889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3243G>C",
"hgvs_p": "p.Gln1081His",
"transcript": "XM_047449246.1",
"protein_id": "XP_047305202.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3501,
"cdna_end": null,
"cdna_length": 8028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3294G>C",
"hgvs_p": "p.Gln1098His",
"transcript": "XM_011534258.3",
"protein_id": "XP_011532560.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 7971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.3228G>C",
"hgvs_p": "p.Gln1076His",
"transcript": "XM_011534261.4",
"protein_id": "XP_011532563.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3228,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3323,
"cdna_end": null,
"cdna_length": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2922G>C",
"hgvs_p": "p.Gln974His",
"transcript": "XM_047449247.1",
"protein_id": "XP_047305203.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 8188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2895G>C",
"hgvs_p": "p.Gln965His",
"transcript": "XM_005265598.6",
"protein_id": "XP_005265655.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2895,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2883G>C",
"hgvs_p": "p.Gln961His",
"transcript": "XM_011534263.4",
"protein_id": "XP_011532565.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1122,
"cds_start": 2883,
"cds_end": null,
"cds_length": 3369,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 7668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2871G>C",
"hgvs_p": "p.Gln957His",
"transcript": "XM_017007527.3",
"protein_id": "XP_016863016.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2871,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 3129,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2856G>C",
"hgvs_p": "p.Gln952His",
"transcript": "XM_005265600.6",
"protein_id": "XP_005265657.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2856,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 2951,
"cdna_end": null,
"cdna_length": 7478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.2922G>C",
"hgvs_p": "p.Gln974His",
"transcript": "XM_011534265.3",
"protein_id": "XP_011532567.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2922,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3180,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.1917G>C",
"hgvs_p": "p.Gln639His",
"transcript": "XM_017007528.1",
"protein_id": "XP_016863017.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 800,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 6616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "c.1917G>C",
"hgvs_p": "p.Gln639His",
"transcript": "XM_017007529.1",
"protein_id": "XP_016863018.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 800,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.214G>C",
"hgvs_p": null,
"transcript": "ENST00000465487.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.3326G>C",
"hgvs_p": null,
"transcript": "NR_135541.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.2993G>C",
"hgvs_p": null,
"transcript": "NR_135542.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.2993G>C",
"hgvs_p": null,
"transcript": "NR_135543.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"hgvs_c": "n.3326G>C",
"hgvs_p": null,
"transcript": "NR_135544.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC4A7",
"gene_hgnc_id": 11033,
"dbsnp": "rs139643738",
"frequency_reference_population": 0.00013757136,
"hom_count_reference_population": 0,
"allele_count_reference_population": 222,
"gnomad_exomes_af": 0.000148466,
"gnomad_genomes_af": 0.0000328744,
"gnomad_exomes_ac": 217,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8936264514923096,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.87,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9889,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.177,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000454389.6",
"gene_symbol": "SLC4A7",
"hgnc_id": 11033,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3294G>C",
"hgvs_p": "p.Gln1098His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}