← 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: 3-183094564-GC-AA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183094564&ref=GC&alt=AA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183094564,
"ref": "GC",
"alt": "AA",
"effect": "missense_variant",
"transcript": "NM_020166.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "NM_020166.5",
"protein_id": "NP_064551.3",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 725,
"cds_start": 130,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "ENST00000265594.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020166.5"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000265594.9",
"protein_id": "ENSP00000265594.4",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 725,
"cds_start": 130,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "NM_020166.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265594.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.-61_-60delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000492597.5",
"protein_id": "ENSP00000419898.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492597.5"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.130_131delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000497830.5",
"protein_id": "ENSP00000420088.1",
"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": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497830.5"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000947201.1",
"protein_id": "ENSP00000617260.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 747,
"cds_start": 130,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947201.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908221.1",
"protein_id": "ENSP00000578280.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 740,
"cds_start": 130,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908221.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908215.1",
"protein_id": "ENSP00000578274.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 722,
"cds_start": 130,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 2505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908215.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908219.1",
"protein_id": "ENSP00000578278.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 719,
"cds_start": 130,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908219.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908222.1",
"protein_id": "ENSP00000578281.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 708,
"cds_start": 130,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908222.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908218.1",
"protein_id": "ENSP00000578277.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 701,
"cds_start": 130,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908218.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908216.1",
"protein_id": "ENSP00000578275.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 696,
"cds_start": 130,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908216.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908214.1",
"protein_id": "ENSP00000578273.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 693,
"cds_start": 130,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908214.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908217.1",
"protein_id": "ENSP00000578276.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 689,
"cds_start": 130,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908217.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000947202.1",
"protein_id": "ENSP00000617261.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 686,
"cds_start": 130,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947202.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908220.1",
"protein_id": "ENSP00000578279.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 665,
"cds_start": 130,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908220.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000947200.1",
"protein_id": "ENSP00000617259.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 635,
"cds_start": 130,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947200.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.38_39delGCinsTT",
"hgvs_p": "p.Ser13Ile",
"transcript": "NM_001293273.2",
"protein_id": "NP_001280202.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 608,
"cds_start": 38,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293273.2"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000476176.5",
"protein_id": "ENSP00000420433.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 597,
"cds_start": 130,
"cds_end": null,
"cds_length": 1796,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476176.5"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "ENST00000908223.1",
"protein_id": "ENSP00000578282.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 509,
"cds_start": 130,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908223.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.79_80delGCinsTT",
"hgvs_p": "p.Ala27Phe",
"transcript": "XM_047448586.1",
"protein_id": "XP_047304542.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 708,
"cds_start": 79,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448586.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.16_17delGCinsTT",
"hgvs_p": "p.Ala6Phe",
"transcript": "XM_011512992.3",
"protein_id": "XP_011511294.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 687,
"cds_start": 16,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512992.3"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "XM_047448587.1",
"protein_id": "XP_047304543.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 561,
"cds_start": 130,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448587.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe",
"transcript": "XM_047448590.1",
"protein_id": "XP_047304546.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 472,
"cds_start": 130,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448590.1"
},
{
"aa_ref": "A",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.79_80delGCinsTT",
"hgvs_p": "p.Ala27Phe",
"transcript": "XM_047448591.1",
"protein_id": "XP_047304547.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 455,
"cds_start": 79,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448591.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.-61_-60delGCinsTT",
"hgvs_p": null,
"transcript": "NM_001363880.1",
"protein_id": "NP_001350809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.-61_-60delGCinsTT",
"hgvs_p": null,
"transcript": "XM_047448588.1",
"protein_id": "XP_047304544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": null,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448588.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.130_131delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000466650.5",
"protein_id": "ENSP00000418979.1",
"transcript_support_level": 4,
"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": 567,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466650.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.43_44delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000473955.1",
"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": 222,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473955.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.130_131delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000486226.1",
"protein_id": "ENSP00000420223.1",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000486226.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.130_131delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000487634.5",
"protein_id": "ENSP00000420591.1",
"transcript_support_level": 4,
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000487634.5"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.130_131delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000495767.5",
"protein_id": "ENSP00000419658.1",
"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": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495767.5"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.16_17delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000497959.5",
"protein_id": "ENSP00000420648.1",
"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": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000497959.5"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.186_187delGCinsTT",
"hgvs_p": null,
"transcript": "NR_120639.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120639.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.797_798delGCinsTT",
"hgvs_p": null,
"transcript": "NR_120640.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120640.2"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.277_278delGCinsTT",
"hgvs_p": null,
"transcript": "XR_007095707.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095707.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.89+4787_89+4788delGCinsTT",
"hgvs_p": null,
"transcript": "ENST00000490284.5",
"protein_id": "ENSP00000419328.1",
"transcript_support_level": 4,
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490284.5"
}
],
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"dbsnp": "rs1553868919",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.334,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_020166.5",
"gene_symbol": "MCCC1",
"hgnc_id": 6936,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.130_131delGCinsTT",
"hgvs_p": "p.Ala44Phe"
}
],
"clinvar_disease": "3-methylcrotonyl-CoA carboxylase 1 deficiency,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "3-methylcrotonyl-CoA carboxylase 1 deficiency|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}