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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: 14-88426674-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88426674&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 88426674,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000393545.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "NM_018418.5",
"protein_id": "NP_060888.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 599,
"cds_start": 815,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": "ENST00000393545.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000393545.9",
"protein_id": "ENSP00000377176.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 599,
"cds_start": 815,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": "NM_018418.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240Gln",
"transcript": "ENST00000356583.9",
"protein_id": "ENSP00000348991.5",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 567,
"cds_start": 719,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240Gln",
"transcript": "ENST00000556553.5",
"protein_id": "ENSP00000451128.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 567,
"cds_start": 719,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240Gln",
"transcript": "NM_001040428.4",
"protein_id": "NP_001035518.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 567,
"cds_start": 719,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "ENST00000045347.11",
"protein_id": "ENSP00000045347.7",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 458,
"cds_start": 815,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "XM_005267851.2",
"protein_id": "XP_005267908.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 600,
"cds_start": 815,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240Gln",
"transcript": "XM_005267852.3",
"protein_id": "XP_005267909.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 568,
"cds_start": 719,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"transcript": "XM_011536952.2",
"protein_id": "XP_011535254.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 543,
"cds_start": 644,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215Gln",
"transcript": "XM_024449660.2",
"protein_id": "XP_024305428.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 542,
"cds_start": 644,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "XM_006720204.2",
"protein_id": "XP_006720267.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 445,
"cds_start": 815,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 8366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "XM_006720205.2",
"protein_id": "XP_006720268.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 434,
"cds_start": 815,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"transcript": "XM_047431581.1",
"protein_id": "XP_047287537.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 433,
"cds_start": 815,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240Gln",
"transcript": "XM_047431582.1",
"protein_id": "XP_047287538.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 412,
"cds_start": 719,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 8267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240Gln",
"transcript": "XM_047431584.1",
"protein_id": "XP_047287540.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 401,
"cds_start": 719,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.943G>A",
"hgvs_p": null,
"transcript": "ENST00000553626.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.*690G>A",
"hgvs_p": null,
"transcript": "ENST00000555515.5",
"protein_id": "ENSP00000450882.1",
"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": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.1362G>A",
"hgvs_p": null,
"transcript": "ENST00000556666.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.*690G>A",
"hgvs_p": null,
"transcript": "ENST00000555515.5",
"protein_id": "ENSP00000450882.1",
"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": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.*89G>A",
"hgvs_p": null,
"transcript": "ENST00000553885.5",
"protein_id": "ENSP00000450606.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "c.*228G>A",
"hgvs_p": null,
"transcript": "ENST00000555401.5",
"protein_id": "ENSP00000452435.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": -4,
"cds_end": null,
"cds_length": 416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.*690G>A",
"hgvs_p": null,
"transcript": "ENST00000553908.5",
"protein_id": "ENSP00000452546.1",
"transcript_support_level": 5,
"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": 761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.*619G>A",
"hgvs_p": null,
"transcript": "ENST00000555534.5",
"protein_id": "ENSP00000450515.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"biotype": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.*619G>A",
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"transcript": "ENST00000556870.5",
"protein_id": "ENSP00000452359.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 786,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"hgvs_c": "n.*535G>A",
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"transcript": "ENST00000557248.5",
"protein_id": "ENSP00000451690.1",
"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": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPATA7",
"gene_hgnc_id": 20423,
"dbsnp": "rs34682727",
"frequency_reference_population": 0.0003750124,
"hom_count_reference_population": 1,
"allele_count_reference_population": 605,
"gnomad_exomes_af": 0.000203278,
"gnomad_genomes_af": 0.00202328,
"gnomad_exomes_ac": 297,
"gnomad_genomes_ac": 308,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0026152431964874268,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.0767,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.29,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000393545.9",
"gene_symbol": "SPATA7",
"hgnc_id": 20423,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln"
}
],
"clinvar_disease": "Leber congenital amaurosis 3,Retinitis pigmentosa,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not specified|Retinitis pigmentosa|Leber congenital amaurosis 3",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}