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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: 12-57516508-T-TGGATC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57516508&ref=T&alt=TGGATC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57516508,
"ref": "T",
"alt": "TGGATC",
"effect": "frameshift_variant",
"transcript": "ENST00000262027.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "RI?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.2631_2635dupGGATC",
"hgvs_p": "p.Leu879fs",
"transcript": "NM_004990.4",
"protein_id": "NP_004981.2",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 900,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": "ENST00000262027.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RI?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.2631_2635dupGGATC",
"hgvs_p": "p.Leu879fs",
"transcript": "ENST00000262027.10",
"protein_id": "ENSP00000262027.5",
"transcript_support_level": 1,
"aa_start": 879,
"aa_end": null,
"aa_length": 900,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": "NM_004990.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RI?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.588_592dupGGATC",
"hgvs_p": "p.Leu198fs",
"transcript": "ENST00000552914.5",
"protein_id": "ENSP00000449787.1",
"transcript_support_level": 3,
"aa_start": 198,
"aa_end": null,
"aa_length": 219,
"cds_start": 593,
"cds_end": null,
"cds_length": 660,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "SD?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.148_152dupGGATC",
"hgvs_p": "p.Lys52fs",
"transcript": "ENST00000548944.1",
"protein_id": "ENSP00000449071.1",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 58,
"cds_start": 153,
"cds_end": null,
"cds_length": 177,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RI?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.1929_1933dupGGATC",
"hgvs_p": "p.Leu645fs",
"transcript": "XM_047428851.1",
"protein_id": "XP_047284807.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 666,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*923_*927dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000537638.6",
"protein_id": "ENSP00000446168.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*2385_*2389dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000545888.6",
"protein_id": "ENSP00000439307.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*188_*192dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000551172.1",
"protein_id": "ENSP00000448378.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*170_*174dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000552499.5",
"protein_id": "ENSP00000447335.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.*166_*170dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000547665.5",
"protein_id": "ENSP00000448910.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "c.*2132_*2136dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000628866.2",
"protein_id": "ENSP00000486738.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": -4,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*923_*927dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000537638.6",
"protein_id": "ENSP00000446168.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*2385_*2389dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000545888.6",
"protein_id": "ENSP00000439307.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*188_*192dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000551172.1",
"protein_id": "ENSP00000448378.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"hgvs_c": "n.*170_*174dupGGATC",
"hgvs_p": null,
"transcript": "ENST00000552499.5",
"protein_id": "ENSP00000447335.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null,
"transcript": "NM_004083.6",
"protein_id": "NP_004074.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 903,
"mane_select": "ENST00000346473.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null,
"transcript": "ENST00000346473.8",
"protein_id": "ENSP00000340671.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 903,
"mane_select": "NM_004083.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null,
"transcript": "ENST00000551116.5",
"protein_id": "ENSP00000448665.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null,
"transcript": "NM_001195053.1",
"protein_id": "NP_001181982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null,
"transcript": "NM_001195054.1",
"protein_id": "NP_001181983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null,
"transcript": "NM_001195055.1",
"protein_id": "NP_001181984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null,
"transcript": "NM_001195056.1",
"protein_id": "NP_001181985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDIT3",
"gene_hgnc_id": 2726,
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null,
"transcript": "NM_001195057.1",
"protein_id": "NP_001181986.1",
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"aa_start": null,
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},
{
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},
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},
{
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},
{
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},
{
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],
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"transcript": "NR_182182.1",
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"feature": null
}
],
"gene_symbol": "MARS1",
"gene_hgnc_id": 6898,
"dbsnp": "rs1172463219",
"frequency_reference_population": 0.000011155776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116331,
"gnomad_genomes_af": 0.00000657186,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 2.844,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000262027.10",
"gene_symbol": "MARS1",
"hgnc_id": 6898,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.2631_2635dupGGATC",
"hgvs_p": "p.Leu879fs"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000346473.8",
"gene_symbol": "DDIT3",
"hgnc_id": 2726,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*296_*300dupGATCC",
"hgvs_p": null
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2U,MARS1-related disorder,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MARS1-related disorder|Charcot-Marie-Tooth disease axonal type 2U;Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}