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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: 1-161118865-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161118865&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161118865,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005600.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe",
"transcript": "NM_005600.3",
"protein_id": "NP_005591.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 327,
"cds_start": 82,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368009.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005600.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe",
"transcript": "ENST00000368009.7",
"protein_id": "ENSP00000356988.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 327,
"cds_start": 82,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005600.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368009.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe",
"transcript": "ENST00000368008.5",
"protein_id": "ENSP00000356987.1",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 243,
"cds_start": 82,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368008.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "n.646C>T",
"hgvs_p": null,
"transcript": "ENST00000496861.5",
"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": "ENST00000496861.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe",
"transcript": "ENST00000865251.1",
"protein_id": "ENSP00000535310.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 325,
"cds_start": 82,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865251.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe",
"transcript": "ENST00000935621.1",
"protein_id": "ENSP00000605680.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 324,
"cds_start": 82,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935621.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe",
"transcript": "ENST00000940923.1",
"protein_id": "ENSP00000610982.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 280,
"cds_start": 82,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940923.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe",
"transcript": "NM_001185092.2",
"protein_id": "NP_001172021.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 243,
"cds_start": 82,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185092.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe",
"transcript": "ENST00000865250.1",
"protein_id": "ENSP00000535309.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 174,
"cds_start": 82,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865250.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Leu45Phe",
"transcript": "XM_005245214.3",
"protein_id": "XP_005245271.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 344,
"cds_start": 133,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245214.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Leu45Phe",
"transcript": "XM_005245215.6",
"protein_id": "XP_005245272.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 344,
"cds_start": 133,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245215.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Leu45Phe",
"transcript": "XM_024447363.2",
"protein_id": "XP_024303131.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 260,
"cds_start": 133,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447363.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Leu45Phe",
"transcript": "XM_047421417.1",
"protein_id": "XP_047277373.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 260,
"cds_start": 133,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.-27C>T",
"hgvs_p": null,
"transcript": "NM_001185094.2",
"protein_id": "NP_001172023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185094.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.-27C>T",
"hgvs_p": null,
"transcript": "ENST00000392190.9",
"protein_id": "ENSP00000376028.5",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392190.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.-27C>T",
"hgvs_p": null,
"transcript": "XM_005245216.5",
"protein_id": "XP_005245273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": null,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245216.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.54-269C>T",
"hgvs_p": null,
"transcript": "NM_001185093.2",
"protein_id": "NP_001172022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185093.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.54-269C>T",
"hgvs_p": null,
"transcript": "ENST00000368007.8",
"protein_id": "ENSP00000356986.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368007.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "c.3-644C>T",
"hgvs_p": null,
"transcript": "ENST00000935622.1",
"protein_id": "ENSP00000605681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935622.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "n.180C>T",
"hgvs_p": null,
"transcript": "ENST00000478277.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000478277.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "n.80C>T",
"hgvs_p": null,
"transcript": "ENST00000485594.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485594.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "n.176C>T",
"hgvs_p": null,
"transcript": "ENST00000486962.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000486962.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "NIT1",
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"hgvs_c": "n.485C>T",
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"transcript": "ENST00000491497.1",
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"aa_length": null,
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"cdna_start": null,
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 6,
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"intron_rank_end": null,
"gene_symbol": "NIT1",
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"hgvs_c": "n.188C>T",
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"transcript": "ENST00000492411.5",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000492411.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
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"hgvs_c": "n.155C>T",
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"transcript": "ENST00000496768.5",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496768.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "NIT1",
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"hgvs_c": "n.116-269C>T",
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"transcript": "ENST00000473918.1",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000473918.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "NIT1",
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"hgvs_c": "n.68-269C>T",
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"transcript": "ENST00000477684.5",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477684.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIT1",
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"hgvs_c": "n.75-269C>T",
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"transcript": "ENST00000479266.5",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479266.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"hgvs_c": "n.-43C>T",
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"transcript": "ENST00000461376.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000461376.1"
}
],
"gene_symbol": "NIT1",
"gene_hgnc_id": 7828,
"dbsnp": "rs747236058",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10697561502456665,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0642,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.562,
"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": 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": "NM_005600.3",
"gene_symbol": "NIT1",
"hgnc_id": 7828,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Leu28Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}