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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: 2-240875159-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240875159&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240875159,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000030.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "NM_000030.3",
"protein_id": "NP_000021.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 392,
"cds_start": 731,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": "ENST00000307503.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000030.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000307503.4",
"protein_id": "ENSP00000302620.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 392,
"cds_start": 731,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": "NM_000030.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307503.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908235.1",
"protein_id": "ENSP00000578294.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 483,
"cds_start": 731,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908235.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908236.1",
"protein_id": "ENSP00000578295.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 455,
"cds_start": 731,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908236.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908246.1",
"protein_id": "ENSP00000578305.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 441,
"cds_start": 731,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908246.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.812T>C",
"hgvs_p": "p.Ile271Thr",
"transcript": "ENST00000908247.1",
"protein_id": "ENSP00000578306.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 419,
"cds_start": 812,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908247.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908244.1",
"protein_id": "ENSP00000578303.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 417,
"cds_start": 731,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908244.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.782T>C",
"hgvs_p": "p.Ile261Thr",
"transcript": "ENST00000908232.1",
"protein_id": "ENSP00000578291.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 409,
"cds_start": 782,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908232.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.773T>C",
"hgvs_p": "p.Ile258Thr",
"transcript": "ENST00000908229.1",
"protein_id": "ENSP00000578288.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 406,
"cds_start": 773,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908229.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000908228.1",
"protein_id": "ENSP00000578287.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 398,
"cds_start": 749,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908228.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000908243.1",
"protein_id": "ENSP00000578302.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 398,
"cds_start": 749,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908243.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908245.1",
"protein_id": "ENSP00000578304.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 398,
"cds_start": 731,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908245.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.728T>C",
"hgvs_p": "p.Ile243Thr",
"transcript": "ENST00000908242.1",
"protein_id": "ENSP00000578301.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 391,
"cds_start": 728,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908242.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.722T>C",
"hgvs_p": "p.Ile241Thr",
"transcript": "ENST00000908230.1",
"protein_id": "ENSP00000578289.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 389,
"cds_start": 722,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908230.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.719T>C",
"hgvs_p": "p.Ile240Thr",
"transcript": "ENST00000908238.1",
"protein_id": "ENSP00000578297.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 388,
"cds_start": 719,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908238.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.680T>C",
"hgvs_p": "p.Ile227Thr",
"transcript": "ENST00000908231.1",
"protein_id": "ENSP00000578290.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 375,
"cds_start": 680,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908231.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908241.1",
"protein_id": "ENSP00000578300.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 373,
"cds_start": 731,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908241.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908240.1",
"protein_id": "ENSP00000578299.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 370,
"cds_start": 731,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908240.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908233.1",
"protein_id": "ENSP00000578292.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 360,
"cds_start": 731,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908233.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr",
"transcript": "ENST00000908237.1",
"protein_id": "ENSP00000578296.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 349,
"cds_start": 731,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908237.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Ile192Thr",
"transcript": "ENST00000908227.1",
"protein_id": "ENSP00000578286.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 340,
"cds_start": 575,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908227.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Ile182Thr",
"transcript": "ENST00000908234.1",
"protein_id": "ENSP00000578293.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 330,
"cds_start": 545,
"cds_end": null,
"cds_length": 993,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908234.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "c.461T>C",
"hgvs_p": "p.Ile154Thr",
"transcript": "ENST00000908239.1",
"protein_id": "ENSP00000578298.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 302,
"cds_start": 461,
"cds_end": null,
"cds_length": 909,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"hgvs_c": "n.383T>C",
"hgvs_p": null,
"transcript": "ENST00000476698.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 507,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476698.1"
}
],
"gene_symbol": "AGXT",
"gene_hgnc_id": 341,
"dbsnp": "rs121908525",
"frequency_reference_population": 0.000028502951,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000259966,
"gnomad_genomes_af": 0.0000525831,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9923057556152344,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.733,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3604,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.29,
"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": 21,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 21,
"benign_score": 0,
"pathogenic_score": 21,
"criteria": [
"PS3",
"PM1",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000030.3",
"gene_symbol": "AGXT",
"hgnc_id": 341,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Ile244Thr"
}
],
"clinvar_disease": " type I,AGXT-related disorder,Nephrocalcinosis,Nephrolithiasis,Primary hyperoxaluria,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 O:1",
"phenotype_combined": "Primary hyperoxaluria, type I|Primary hyperoxaluria|not provided|Nephrolithiasis;Nephrocalcinosis|AGXT-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}