← 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: 2-200891963-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200891963&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200891963,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001136039.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "NM_001369441.2",
"protein_id": "NP_001356370.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": "ENST00000409020.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369441.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000409020.6",
"protein_id": "ENSP00000386394.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": "NM_001369441.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409020.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000409588.1",
"protein_id": "ENSP00000387021.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 285,
"cds_start": 20,
"cds_end": null,
"cds_length": 858,
"cdna_start": 47,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409588.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.-56-6G>T",
"hgvs_p": null,
"transcript": "ENST00000359683.8",
"protein_id": "ENSP00000352711.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359683.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917604.1",
"protein_id": "ENSP00000587663.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 387,
"cds_start": 20,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 1705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917604.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917600.1",
"protein_id": "ENSP00000587659.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 385,
"cds_start": 20,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917600.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "NM_001136039.2",
"protein_id": "NP_001129511.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136039.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "NM_001369442.1",
"protein_id": "NP_001356371.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369442.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "NM_001369444.1",
"protein_id": "NP_001356373.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369444.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "NM_001369445.2",
"protein_id": "NP_001356374.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369445.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000409357.5",
"protein_id": "ENSP00000387315.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409357.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000651500.1",
"protein_id": "ENSP00000498853.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651500.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000900050.1",
"protein_id": "ENSP00000570109.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900050.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000900051.1",
"protein_id": "ENSP00000570110.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900051.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000900052.1",
"protein_id": "ENSP00000570111.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900052.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000900054.1",
"protein_id": "ENSP00000570113.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900054.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000900055.1",
"protein_id": "ENSP00000570114.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900055.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000900056.1",
"protein_id": "ENSP00000570115.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900056.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917598.1",
"protein_id": "ENSP00000587657.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917598.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917599.1",
"protein_id": "ENSP00000587658.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917599.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917601.1",
"protein_id": "ENSP00000587660.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 1488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917601.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917602.1",
"protein_id": "ENSP00000587661.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917602.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917605.1",
"protein_id": "ENSP00000587664.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917605.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917606.1",
"protein_id": "ENSP00000587665.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917606.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917607.1",
"protein_id": "ENSP00000587666.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917607.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000951015.1",
"protein_id": "ENSP00000621074.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951015.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000951016.1",
"protein_id": "ENSP00000621075.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951016.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000900053.1",
"protein_id": "ENSP00000570112.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 376,
"cds_start": 20,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 70,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900053.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000917603.1",
"protein_id": "ENSP00000587662.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 330,
"cds_start": 20,
"cds_end": null,
"cds_length": 993,
"cdna_start": 65,
"cdna_end": null,
"cdna_length": 1285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917603.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "NM_001142356.1",
"protein_id": "NP_001135828.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 285,
"cds_start": 20,
"cds_end": null,
"cds_length": 858,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142356.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "ENST00000454952.1",
"protein_id": "ENSP00000394955.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 161,
"cds_start": 20,
"cds_end": null,
"cds_length": 488,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454952.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "XM_047445371.1",
"protein_id": "XP_047301327.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445371.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu",
"transcript": "XM_047445372.1",
"protein_id": "XP_047301328.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 377,
"cds_start": 20,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.-56-6G>T",
"hgvs_p": null,
"transcript": "NM_001142355.1",
"protein_id": "NP_001135827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.-56-6G>T",
"hgvs_p": null,
"transcript": "NM_001369443.1",
"protein_id": "NP_001356372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.-56-6G>T",
"hgvs_p": null,
"transcript": "NM_021824.3",
"protein_id": "NP_068596.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021824.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.-56-6G>T",
"hgvs_p": null,
"transcript": "ENST00000426253.5",
"protein_id": "ENSP00000412761.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426253.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"hgvs_c": "c.-56-6G>T",
"hgvs_p": null,
"transcript": "ENST00000409129.2",
"protein_id": "ENSP00000387061.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409129.2"
}
],
"gene_symbol": "NIF3L1",
"gene_hgnc_id": 13390,
"dbsnp": "rs755965506",
"frequency_reference_population": 6.8522155e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85222e-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": 0.09868454933166504,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.0837,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.543,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001136039.2",
"gene_symbol": "NIF3L1",
"hgnc_id": 13390,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.20G>T",
"hgvs_p": "p.Arg7Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}