← 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: 2-110143602-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=110143602&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 110143602,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000445609.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490Lys",
"transcript": "NM_001128178.3",
"protein_id": "NP_001121650.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 677,
"cds_start": 1469,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": "ENST00000445609.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490Lys",
"transcript": "ENST00000445609.7",
"protein_id": "ENSP00000389879.3",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 677,
"cds_start": 1469,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": "NM_001128178.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546Lys",
"transcript": "ENST00000316534.8",
"protein_id": "ENSP00000313169.4",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 733,
"cds_start": 1637,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Lys",
"transcript": "ENST00000393272.7",
"protein_id": "ENSP00000376953.3",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 732,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427Lys",
"transcript": "ENST00000355301.8",
"protein_id": "ENSP00000347452.4",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 614,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546Lys",
"transcript": "NM_000272.5",
"protein_id": "NP_000263.2",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 733,
"cds_start": 1637,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Lys",
"transcript": "NM_207181.4",
"protein_id": "NP_997064.2",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 732,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Lys",
"transcript": "ENST00000417665.5",
"protein_id": "ENSP00000402176.1",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
"aa_length": 711,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Lys",
"transcript": "NM_001374256.1",
"protein_id": "NP_001361185.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 676,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490Lys",
"transcript": "NM_001374257.1",
"protein_id": "NP_001361186.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 630,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429Lys",
"transcript": "ENST00000676028.1",
"protein_id": "ENSP00000502639.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 616,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427Lys",
"transcript": "NM_001128179.3",
"protein_id": "NP_001121651.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 614,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427Lys",
"transcript": "ENST00000676053.1",
"protein_id": "ENSP00000502475.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 614,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505Lys",
"transcript": "ENST00000674677.1",
"protein_id": "ENSP00000502265.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 609,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Lys",
"transcript": "ENST00000675067.1",
"protein_id": "ENSP00000502817.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 410,
"cds_start": 668,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Lys",
"transcript": "ENST00000676091.1",
"protein_id": "ENSP00000502528.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 409,
"cds_start": 665,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546Lys",
"transcript": "XM_006712551.2",
"protein_id": "XP_006712614.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 768,
"cds_start": 1637,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Arg546Lys",
"transcript": "XM_011511244.2",
"protein_id": "XP_011509546.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 715,
"cds_start": 1637,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490Lys",
"transcript": "XM_005263676.2",
"protein_id": "XP_005263733.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 712,
"cds_start": 1469,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489Lys",
"transcript": "XM_005263677.2",
"protein_id": "XP_005263734.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 711,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 2624,
"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": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3054G>A",
"hgvs_p": null,
"transcript": "ENST00000461707.5",
"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": 3822,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.96G>A",
"hgvs_p": null,
"transcript": "ENST00000493051.1",
"protein_id": null,
"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": 577,
"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,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3921G>A",
"hgvs_p": null,
"transcript": "ENST00000496524.5",
"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": 10006,
"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": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.2147G>A",
"hgvs_p": null,
"transcript": "ENST00000675356.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3065,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.2873G>A",
"hgvs_p": null,
"transcript": "ENST00000675632.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3791,
"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": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3172G>A",
"hgvs_p": null,
"transcript": "ENST00000675752.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4078,
"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": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3132G>A",
"hgvs_p": null,
"transcript": "ENST00000676165.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4050,
"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": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.2560G>A",
"hgvs_p": null,
"transcript": "ENST00000676258.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"dbsnp": "rs149887461",
"frequency_reference_population": 0.00032223004,
"hom_count_reference_population": 7,
"allele_count_reference_population": 520,
"gnomad_exomes_af": 0.000309954,
"gnomad_genomes_af": 0.000440071,
"gnomad_exomes_ac": 453,
"gnomad_genomes_ac": 67,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006969422101974487,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.092,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.986,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000445609.7",
"gene_symbol": "NPHP1",
"hgnc_id": 7905,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490Lys"
}
],
"clinvar_disease": "Joubert syndrome with renal defect,NPHP1-related disorder,Nephronophthisis,Nephronophthisis 1,Senior-Loken syndrome 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:5",
"phenotype_combined": "Senior-Loken syndrome 1|not specified|Joubert syndrome with renal defect|Nephronophthisis|not provided|Nephronophthisis 1|NPHP1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}