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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: 20-3229655-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3229655&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3229655,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000642402.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1611C>T",
"hgvs_p": "p.Asn537Asn",
"transcript": "NM_001174089.2",
"protein_id": "NP_001167560.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 875,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": "ENST00000642402.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1611C>T",
"hgvs_p": "p.Asn537Asn",
"transcript": "ENST00000642402.1",
"protein_id": "ENSP00000493503.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 875,
"cds_start": 1611,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": "NM_001174089.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1659C>T",
"hgvs_p": "p.Asn553Asn",
"transcript": "ENST00000380056.7",
"protein_id": "ENSP00000369396.3",
"transcript_support_level": 1,
"aa_start": 553,
"aa_end": null,
"aa_length": 891,
"cds_start": 1659,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Thr557Met",
"transcript": "XM_017028093.2",
"protein_id": "XP_016883582.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 878,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1541C>T",
"hgvs_p": "p.Thr514Met",
"transcript": "XM_047440542.1",
"protein_id": "XP_047296498.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 835,
"cds_start": 1541,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Thr557Met",
"transcript": "XM_047440544.1",
"protein_id": "XP_047296500.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 636,
"cds_start": 1670,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1740C>T",
"hgvs_p": "p.Asn580Asn",
"transcript": "NM_001174090.2",
"protein_id": "NP_001167561.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 918,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1740C>T",
"hgvs_p": "p.Asn580Asn",
"transcript": "ENST00000380059.7",
"protein_id": "ENSP00000369399.3",
"transcript_support_level": 2,
"aa_start": 580,
"aa_end": null,
"aa_length": 918,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1659C>T",
"hgvs_p": "p.Asn553Asn",
"transcript": "NM_032034.4",
"protein_id": "NP_114423.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 891,
"cds_start": 1659,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1626C>T",
"hgvs_p": "p.Asn542Asn",
"transcript": "NM_001400280.1",
"protein_id": "NP_001387209.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 880,
"cds_start": 1626,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Asn518Asn",
"transcript": "NM_001400277.1",
"protein_id": "NP_001387206.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 856,
"cds_start": 1554,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Asn518Asn",
"transcript": "NM_001400278.1",
"protein_id": "NP_001387207.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 856,
"cds_start": 1554,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Asn518Asn",
"transcript": "NM_001400279.1",
"protein_id": "NP_001387208.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 856,
"cds_start": 1554,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1542C>T",
"hgvs_p": "p.Asn514Asn",
"transcript": "ENST00000644011.1",
"protein_id": "ENSP00000496214.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 852,
"cds_start": 1542,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1497C>T",
"hgvs_p": "p.Asn499Asn",
"transcript": "NM_001363745.2",
"protein_id": "NP_001350674.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 837,
"cds_start": 1497,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1497C>T",
"hgvs_p": "p.Asn499Asn",
"transcript": "ENST00000647296.1",
"protein_id": "ENSP00000495050.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 837,
"cds_start": 1497,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Asn494Asn",
"transcript": "ENST00000644692.1",
"protein_id": "ENSP00000493824.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 808,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1659C>T",
"hgvs_p": "p.Asn553Asn",
"transcript": "XM_047440540.1",
"protein_id": "XP_047296496.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 891,
"cds_start": 1659,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Asn518Asn",
"transcript": "XM_017028094.2",
"protein_id": "XP_016883583.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 856,
"cds_start": 1554,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Asn518Asn",
"transcript": "XM_017028096.2",
"protein_id": "XP_016883585.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 856,
"cds_start": 1554,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1440C>T",
"hgvs_p": "p.Asn480Asn",
"transcript": "XM_047440543.1",
"protein_id": "XP_047296499.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 818,
"cds_start": 1440,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"hgvs_c": "c.1740C>T",
"hgvs_p": "p.Asn580Asn",
"transcript": "XM_047440541.1",
"protein_id": "XP_047296497.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 755,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 2489,
"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": 14,
"exon_rank_end": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_rank": 1,
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"exon_count": 3,
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{
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"protein_coding": false,
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"consequences": [
"non_coding_transcript_exon_variant"
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"cdna_length": 3096,
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_count": 19,
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"gene_symbol": "SLC4A11",
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{
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"consequences": [
"non_coding_transcript_exon_variant"
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"gene_symbol": "SLC4A11",
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "SLC4A11",
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"transcript": "ENST00000470631.1",
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"cdna_length": 480,
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"feature": null
}
],
"gene_symbol": "SLC4A11",
"gene_hgnc_id": 16438,
"dbsnp": "rs41281860",
"frequency_reference_population": 0.11060132,
"hom_count_reference_population": 11084,
"allele_count_reference_population": 178482,
"gnomad_exomes_af": 0.112697,
"gnomad_genomes_af": 0.0904936,
"gnomad_exomes_ac": 164700,
"gnomad_genomes_ac": 13782,
"gnomad_exomes_homalt": 10278,
"gnomad_genomes_homalt": 806,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000642402.1",
"gene_symbol": "SLC4A11",
"hgnc_id": 16438,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1611C>T",
"hgvs_p": "p.Asn537Asn"
}
],
"clinvar_disease": "Congenital hereditary endothelial dystrophy of cornea,Corneal dystrophy,Corneal dystrophy-perceptive deafness syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Corneal dystrophy|Corneal dystrophy-perceptive deafness syndrome|Congenital hereditary endothelial dystrophy of cornea|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}