← 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: 2-206130127-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206130127&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206130127,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001199984.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "NM_005006.7",
"protein_id": "NP_004997.4",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233190.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005006.7"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000233190.11",
"protein_id": "ENSP00000233190.5",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005006.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233190.11"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571*",
"transcript": "NM_001199984.2",
"protein_id": "NP_001186913.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 741,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199984.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*",
"transcript": "ENST00000903706.1",
"protein_id": "ENSP00000573765.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 730,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903706.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000449699.5",
"protein_id": "ENSP00000399912.1",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449699.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000903708.1",
"protein_id": "ENSP00000573767.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903708.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000903709.1",
"protein_id": "ENSP00000573768.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903709.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000938122.1",
"protein_id": "ENSP00000608181.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938122.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000938124.1",
"protein_id": "ENSP00000608183.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938124.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000948901.1",
"protein_id": "ENSP00000618960.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948901.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000948907.1",
"protein_id": "ENSP00000618966.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 727,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948907.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1663C>T",
"hgvs_p": "p.Arg555*",
"transcript": "ENST00000903702.1",
"protein_id": "ENSP00000573761.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 725,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903702.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Arg554*",
"transcript": "ENST00000948898.1",
"protein_id": "ENSP00000618957.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 724,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948898.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000948903.1",
"protein_id": "ENSP00000618962.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 717,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948903.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000903704.1",
"protein_id": "ENSP00000573763.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 711,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903704.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537*",
"transcript": "ENST00000948900.1",
"protein_id": "ENSP00000618959.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 707,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948900.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000903701.1",
"protein_id": "ENSP00000573760.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 706,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903701.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1600C>T",
"hgvs_p": "p.Arg534*",
"transcript": "ENST00000948906.1",
"protein_id": "ENSP00000618965.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 704,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948906.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521*",
"transcript": "NM_001199981.2",
"protein_id": "NP_001186910.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 691,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199981.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521*",
"transcript": "ENST00000440274.5",
"protein_id": "ENSP00000409766.1",
"transcript_support_level": 2,
"aa_start": 521,
"aa_end": null,
"aa_length": 691,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440274.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1540C>T",
"hgvs_p": "p.Arg514*",
"transcript": "ENST00000903700.1",
"protein_id": "ENSP00000573759.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 684,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903700.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000903705.1",
"protein_id": "ENSP00000573764.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 682,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903705.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1534C>T",
"hgvs_p": "p.Arg512*",
"transcript": "ENST00000903707.1",
"protein_id": "ENSP00000573766.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 682,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903707.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510*",
"transcript": "ENST00000948902.1",
"protein_id": "ENSP00000618961.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 680,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948902.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500*",
"transcript": "NM_001199983.2",
"protein_id": "NP_001186912.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 670,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199983.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500*",
"transcript": "ENST00000423725.5",
"protein_id": "ENSP00000397760.1",
"transcript_support_level": 2,
"aa_start": 500,
"aa_end": null,
"aa_length": 670,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423725.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495*",
"transcript": "ENST00000903703.1",
"protein_id": "ENSP00000573762.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 665,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903703.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495*",
"transcript": "ENST00000948899.1",
"protein_id": "ENSP00000618958.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 665,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948899.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470*",
"transcript": "ENST00000948904.1",
"protein_id": "ENSP00000618963.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 640,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948904.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460*",
"transcript": "ENST00000948908.1",
"protein_id": "ENSP00000618967.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 630,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948908.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446*",
"transcript": "NM_001199982.2",
"protein_id": "NP_001186911.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 616,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199982.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Arg446*",
"transcript": "ENST00000432169.5",
"protein_id": "ENSP00000409689.1",
"transcript_support_level": 2,
"aa_start": 446,
"aa_end": null,
"aa_length": 616,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432169.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441*",
"transcript": "ENST00000457011.5",
"protein_id": "ENSP00000400976.1",
"transcript_support_level": 2,
"aa_start": 441,
"aa_end": null,
"aa_length": 611,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457011.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417*",
"transcript": "ENST00000948905.1",
"protein_id": "ENSP00000618964.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 587,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.62-5851C>T",
"hgvs_p": null,
"transcript": "ENST00000938123.1",
"protein_id": "ENSP00000608182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": null,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938123.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "n.141C>T",
"hgvs_p": null,
"transcript": "ENST00000498520.1",
"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": "retained_intron",
"feature": "ENST00000498520.1"
}
],
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"dbsnp": "rs372691318",
"frequency_reference_population": 0.000039653674,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000417273,
"gnomad_genomes_af": 0.0000197239,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6200000047683716,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.253,
"phylop100way_prediction": "Uncertain_significance",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001199984.2",
"gene_symbol": "NDUFS1",
"hgnc_id": 7707,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Arg571*"
}
],
"clinvar_disease": " nuclear type 5,Mitochondrial complex I deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 5|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}