← 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: 2-110123912-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=110123912&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 110123912,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000445609.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1913A>C",
"hgvs_p": "p.Gln638Pro",
"transcript": "NM_001128178.3",
"protein_id": "NP_001121650.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 677,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": "ENST00000445609.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1913A>C",
"hgvs_p": "p.Gln638Pro",
"transcript": "ENST00000445609.7",
"protein_id": "ENSP00000389879.3",
"transcript_support_level": 1,
"aa_start": 638,
"aa_end": null,
"aa_length": 677,
"cds_start": 1913,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": "NM_001128178.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.2081A>C",
"hgvs_p": "p.Gln694Pro",
"transcript": "ENST00000316534.8",
"protein_id": "ENSP00000313169.4",
"transcript_support_level": 1,
"aa_start": 694,
"aa_end": null,
"aa_length": 733,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.2078A>C",
"hgvs_p": "p.Gln693Pro",
"transcript": "ENST00000393272.7",
"protein_id": "ENSP00000376953.3",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 732,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1724A>C",
"hgvs_p": "p.Gln575Pro",
"transcript": "ENST00000355301.8",
"protein_id": "ENSP00000347452.4",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 614,
"cds_start": 1724,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.2081A>C",
"hgvs_p": "p.Gln694Pro",
"transcript": "NM_000272.5",
"protein_id": "NP_000263.2",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 733,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.2078A>C",
"hgvs_p": "p.Gln693Pro",
"transcript": "NM_207181.4",
"protein_id": "NP_997064.2",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 732,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Gln672Pro",
"transcript": "ENST00000417665.5",
"protein_id": "ENSP00000402176.1",
"transcript_support_level": 5,
"aa_start": 672,
"aa_end": null,
"aa_length": 711,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1910A>C",
"hgvs_p": "p.Gln637Pro",
"transcript": "NM_001374256.1",
"protein_id": "NP_001361185.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 676,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1730A>C",
"hgvs_p": "p.Gln577Pro",
"transcript": "ENST00000676028.1",
"protein_id": "ENSP00000502639.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 616,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1724A>C",
"hgvs_p": "p.Gln575Pro",
"transcript": "NM_001128179.3",
"protein_id": "NP_001121651.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 614,
"cds_start": 1724,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1724A>C",
"hgvs_p": "p.Gln575Pro",
"transcript": "ENST00000676053.1",
"protein_id": "ENSP00000502475.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 614,
"cds_start": 1724,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1112A>C",
"hgvs_p": "p.Gln371Pro",
"transcript": "ENST00000675067.1",
"protein_id": "ENSP00000502817.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 410,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 3411,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.1109A>C",
"hgvs_p": "p.Gln370Pro",
"transcript": "ENST00000676091.1",
"protein_id": "ENSP00000502528.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 409,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.2186A>C",
"hgvs_p": "p.Gln729Pro",
"transcript": "XM_006712551.2",
"protein_id": "XP_006712614.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 768,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.2018A>C",
"hgvs_p": "p.Gln673Pro",
"transcript": "XM_005263676.2",
"protein_id": "XP_005263733.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 712,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Gln672Pro",
"transcript": "XM_005263677.2",
"protein_id": "XP_005263734.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 711,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2060,
"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": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3498A>C",
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.9442A>C",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.6162A>C",
"hgvs_p": null,
"transcript": "ENST00000675294.1",
"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": 6665,
"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": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.2591A>C",
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3317A>C",
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3751A>C",
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3576A>C",
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "n.3139A>C",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.*155A>C",
"hgvs_p": null,
"transcript": "NM_001374257.1",
"protein_id": "NP_001361186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.*1701A>C",
"hgvs_p": null,
"transcript": "ENST00000674677.1",
"protein_id": "ENSP00000502265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": -4,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"hgvs_c": "c.*180A>C",
"hgvs_p": null,
"transcript": "XM_011511244.2",
"protein_id": "XP_011509546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NPHP1",
"gene_hgnc_id": 7905,
"dbsnp": "rs186950965",
"frequency_reference_population": 6.840563e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84056e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25178566575050354,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.332,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.603,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000445609.7",
"gene_symbol": "NPHP1",
"hgnc_id": 7905,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1913A>C",
"hgvs_p": "p.Gln638Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}