← 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: 4-9920546-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=9920546&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 9920546,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020041.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "NM_020041.3",
"protein_id": "NP_064425.2",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 540,
"cds_start": 841,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264784.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020041.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "ENST00000264784.8",
"protein_id": "ENSP00000264784.3",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 540,
"cds_start": 841,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020041.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264784.8"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Asp252His",
"transcript": "ENST00000309065.7",
"protein_id": "ENSP00000311383.3",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 511,
"cds_start": 754,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309065.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "n.875G>C",
"hgvs_p": null,
"transcript": "ENST00000505104.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505104.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "ENST00000851832.1",
"protein_id": "ENSP00000521891.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 522,
"cds_start": 841,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851832.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Asp252His",
"transcript": "NM_001001290.2",
"protein_id": "NP_001001290.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 511,
"cds_start": 754,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001290.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Asp252His",
"transcript": "ENST00000506583.5",
"protein_id": "ENSP00000422209.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 511,
"cds_start": 754,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506583.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.742G>C",
"hgvs_p": "p.Asp248His",
"transcript": "ENST00000851830.1",
"protein_id": "ENSP00000521889.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 507,
"cds_start": 742,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851830.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "ENST00000851829.1",
"protein_id": "ENSP00000521888.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 506,
"cds_start": 841,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851829.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "ENST00000967831.1",
"protein_id": "ENSP00000637890.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 503,
"cds_start": 841,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967831.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.409G>C",
"hgvs_p": "p.Asp137His",
"transcript": "ENST00000851828.1",
"protein_id": "ENSP00000521887.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 396,
"cds_start": 409,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851828.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_011513856.4",
"protein_id": "XP_011512158.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 615,
"cds_start": 841,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513856.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_017008457.3",
"protein_id": "XP_016863946.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 609,
"cds_start": 841,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008457.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Asp252His",
"transcript": "XM_011513858.2",
"protein_id": "XP_011512160.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 586,
"cds_start": 754,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513858.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Asp252His",
"transcript": "XM_047415973.1",
"protein_id": "XP_047271929.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 580,
"cds_start": 754,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415973.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_006713968.5",
"protein_id": "XP_006714031.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 563,
"cds_start": 841,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713968.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_047415974.1",
"protein_id": "XP_047271930.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 553,
"cds_start": 841,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415974.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_011513859.4",
"protein_id": "XP_011512161.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 538,
"cds_start": 841,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513859.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_011513860.4",
"protein_id": "XP_011512162.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 537,
"cds_start": 841,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513860.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Asp252His",
"transcript": "XM_047415975.1",
"protein_id": "XP_047271931.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 511,
"cds_start": 754,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415975.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_017008458.3",
"protein_id": "XP_016863947.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 487,
"cds_start": 841,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008458.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_011513861.4",
"protein_id": "XP_011512163.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 486,
"cds_start": 841,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513861.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.454G>C",
"hgvs_p": "p.Asp152His",
"transcript": "XM_024454151.2",
"protein_id": "XP_024309919.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 486,
"cds_start": 454,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454151.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Asp149His",
"transcript": "XM_047415976.1",
"protein_id": "XP_047271932.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 483,
"cds_start": 445,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415976.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_011513864.3",
"protein_id": "XP_011512166.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 479,
"cds_start": 433,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513864.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_024454152.2",
"protein_id": "XP_024309920.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 477,
"cds_start": 841,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454152.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.379G>C",
"hgvs_p": "p.Asp127His",
"transcript": "XM_017008459.2",
"protein_id": "XP_016863948.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 461,
"cds_start": 379,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008459.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_011513865.3",
"protein_id": "XP_011512167.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 452,
"cds_start": 841,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513865.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_011513866.3",
"protein_id": "XP_011512168.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 445,
"cds_start": 841,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513866.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_024454153.2",
"protein_id": "XP_024309921.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 440,
"cds_start": 841,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454153.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Asp149His",
"transcript": "XM_047415977.1",
"protein_id": "XP_047271933.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 431,
"cds_start": 445,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415977.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.283G>C",
"hgvs_p": "p.Asp95His",
"transcript": "XM_011513867.4",
"protein_id": "XP_011512169.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 429,
"cds_start": 283,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513867.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Asp149His",
"transcript": "XM_017008460.3",
"protein_id": "XP_016863949.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 406,
"cds_start": 445,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008460.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Asp145His",
"transcript": "XM_047415978.1",
"protein_id": "XP_047271934.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 401,
"cds_start": 433,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415978.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His",
"transcript": "XM_047415979.1",
"protein_id": "XP_047271935.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 377,
"cds_start": 841,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415979.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Asp149His",
"transcript": "XM_047415980.1",
"protein_id": "XP_047271936.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 320,
"cds_start": 445,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415980.1"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"hgvs_c": "c.682-12201G>C",
"hgvs_p": null,
"transcript": "ENST00000851831.1",
"protein_id": "ENSP00000521890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851831.1"
}
],
"gene_symbol": "SLC2A9",
"gene_hgnc_id": 13446,
"dbsnp": "rs73225891",
"frequency_reference_population": 0.02366957,
"hom_count_reference_population": 568,
"allele_count_reference_population": 38206,
"gnomad_exomes_af": 0.0241848,
"gnomad_genomes_af": 0.0187245,
"gnomad_exomes_ac": 35354,
"gnomad_genomes_ac": 2852,
"gnomad_exomes_homalt": 515,
"gnomad_genomes_homalt": 53,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020402222871780396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.435,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3818,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.616,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_020041.3",
"gene_symbol": "SLC2A9",
"hgnc_id": 13446,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.841G>C",
"hgvs_p": "p.Asp281His"
}
],
"clinvar_disease": " 2, renal,Hypouricemia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Hypouricemia, renal, 2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}