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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: 17-80220313-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80220313&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 80220313,
"ref": "T",
"alt": "A",
"effect": "initiator_codon_variant",
"transcript": "NM_000199.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_000199.5",
"protein_id": "NP_000190.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 502,
"cds_start": 1,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 21,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": "ENST00000326317.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000199.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000326317.11",
"protein_id": "ENSP00000314606.6",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 502,
"cds_start": 1,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 21,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": "NM_000199.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326317.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "n.10A>T",
"hgvs_p": null,
"transcript": "ENST00000575282.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5562,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000575282.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000874335.1",
"protein_id": "ENSP00000544394.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 514,
"cds_start": 1,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874335.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000874334.1",
"protein_id": "ENSP00000544393.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 505,
"cds_start": 1,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874334.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000874333.1",
"protein_id": "ENSP00000544392.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 500,
"cds_start": 1,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 72,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874333.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001352921.3",
"protein_id": "NP_001339850.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 362,
"cds_start": 1,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 21,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352921.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001352922.2",
"protein_id": "NP_001339851.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 334,
"cds_start": 1,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 21,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352922.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000570923.1",
"protein_id": "ENSP00000458200.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 274,
"cds_start": 1,
"cds_end": null,
"cds_length": 825,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570923.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000570427.1",
"protein_id": "ENSP00000459765.1",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 186,
"cds_start": 1,
"cds_end": null,
"cds_length": 563,
"cdna_start": 21,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570427.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"initiator_codon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?",
"transcript": "XM_011525126.2",
"protein_id": "XP_011523428.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 336,
"cds_start": 1,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 21,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525126.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A11",
"gene_hgnc_id": 14471,
"hgvs_c": "c.-326T>A",
"hgvs_p": null,
"transcript": "ENST00000945513.1",
"protein_id": "ENSP00000615572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": null,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC26A11",
"gene_hgnc_id": 14471,
"hgvs_c": "c.-14+325T>A",
"hgvs_p": null,
"transcript": "ENST00000945512.1",
"protein_id": "ENSP00000615571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": null,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945512.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC26A11",
"gene_hgnc_id": 14471,
"hgvs_c": "c.-14+325T>A",
"hgvs_p": null,
"transcript": "ENST00000577155.5",
"protein_id": "ENSP00000458521.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 152,
"cds_start": null,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577155.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "c.-174+569A>T",
"hgvs_p": null,
"transcript": "ENST00000576707.5",
"protein_id": "ENSP00000461128.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576707.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "n.21A>T",
"hgvs_p": null,
"transcript": "ENST00000571051.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000571051.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "n.21A>T",
"hgvs_p": null,
"transcript": "ENST00000571075.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000571075.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "n.21A>T",
"hgvs_p": null,
"transcript": "ENST00000571675.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000571675.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "n.19A>T",
"hgvs_p": null,
"transcript": "ENST00000572208.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000572208.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "n.1A>T",
"hgvs_p": null,
"transcript": "ENST00000573150.5",
"protein_id": "ENSP00000459280.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000573150.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "n.21A>T",
"hgvs_p": null,
"transcript": "ENST00000575188.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000575188.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGSH",
"gene_hgnc_id": 10818,
"hgvs_c": "n.1A>T",
"hgvs_p": null,
"transcript": "ENST00000576941.5",
"protein_id": "ENSP00000461160.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000576941.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
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"biotype": "retained_intron",
"feature": "ENST00000572652.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "SGSH",
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"hgvs_c": "n.-57A>T",
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"transcript": "ENST00000574505.5",
"protein_id": "ENSP00000459708.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000574505.5"
}
],
"gene_symbol": "SGSH",
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"dbsnp": "rs1250300189",
"frequency_reference_population": 7.467089e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.46709e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9737398028373718,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.625,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.099,
"phylop100way_prediction": "Benign",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PS1_Moderate",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_000199.5",
"gene_symbol": "SGSH",
"hgnc_id": 10818,
"effects": [
"initiator_codon_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1A>T",
"hgvs_p": "p.Met1?"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000945513.1",
"gene_symbol": "SLC26A11",
"hgnc_id": 14471,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-326T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}