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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: 9-129095437-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129095437&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129095437,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001346546.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1841T>C",
"hgvs_p": "p.Met614Thr",
"transcript": "NM_000755.5",
"protein_id": "NP_000746.3",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 626,
"cds_start": 1841,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318080.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000755.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1841T>C",
"hgvs_p": "p.Met614Thr",
"transcript": "ENST00000318080.7",
"protein_id": "ENSP00000315013.2",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 626,
"cds_start": 1841,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000755.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318080.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "n.*1817T>C",
"hgvs_p": null,
"transcript": "ENST00000458362.5",
"protein_id": "ENSP00000400367.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458362.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "n.*1817T>C",
"hgvs_p": null,
"transcript": "ENST00000458362.5",
"protein_id": "ENSP00000400367.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458362.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1982T>C",
"hgvs_p": "p.Met661Thr",
"transcript": "ENST00000943969.1",
"protein_id": "ENSP00000614028.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 673,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943969.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1871T>C",
"hgvs_p": "p.Met624Thr",
"transcript": "ENST00000943961.1",
"protein_id": "ENSP00000614020.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 636,
"cds_start": 1871,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943961.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Met615Thr",
"transcript": "NM_001346546.2",
"protein_id": "NP_001333475.2",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 627,
"cds_start": 1844,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346546.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1841T>C",
"hgvs_p": "p.Met614Thr",
"transcript": "ENST00000943957.1",
"protein_id": "ENSP00000614016.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 626,
"cds_start": 1841,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943957.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1826T>C",
"hgvs_p": "p.Met609Thr",
"transcript": "ENST00000943966.1",
"protein_id": "ENSP00000614025.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 621,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943966.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1814T>C",
"hgvs_p": "p.Met605Thr",
"transcript": "ENST00000943967.1",
"protein_id": "ENSP00000614026.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 617,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943967.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1799T>C",
"hgvs_p": "p.Met600Thr",
"transcript": "ENST00000943963.1",
"protein_id": "ENSP00000614022.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 612,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943963.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1787T>C",
"hgvs_p": "p.Met596Thr",
"transcript": "ENST00000868875.1",
"protein_id": "ENSP00000538934.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 608,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868875.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1787T>C",
"hgvs_p": "p.Met596Thr",
"transcript": "ENST00000868877.1",
"protein_id": "ENSP00000538936.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 608,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868877.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1781T>C",
"hgvs_p": "p.Met594Thr",
"transcript": "ENST00000868876.1",
"protein_id": "ENSP00000538935.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 606,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868876.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1778T>C",
"hgvs_p": "p.Met593Thr",
"transcript": "NM_001257363.3",
"protein_id": "NP_001244292.2",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 605,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257363.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1778T>C",
"hgvs_p": "p.Met593Thr",
"transcript": "NM_004003.4",
"protein_id": "NP_003994.3",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 605,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004003.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1778T>C",
"hgvs_p": "p.Met593Thr",
"transcript": "ENST00000943968.1",
"protein_id": "ENSP00000614027.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 605,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943968.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1775T>C",
"hgvs_p": "p.Met592Thr",
"transcript": "ENST00000943959.1",
"protein_id": "ENSP00000614018.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 604,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943959.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1769T>C",
"hgvs_p": "p.Met590Thr",
"transcript": "NM_001346547.2",
"protein_id": "NP_001333476.2",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 602,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346547.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1769T>C",
"hgvs_p": "p.Met590Thr",
"transcript": "ENST00000681627.1",
"protein_id": "ENSP00000506267.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 602,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681627.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1745T>C",
"hgvs_p": "p.Met582Thr",
"transcript": "ENST00000868878.1",
"protein_id": "ENSP00000538937.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 594,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868878.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1736T>C",
"hgvs_p": "p.Met579Thr",
"transcript": "ENST00000868879.1",
"protein_id": "ENSP00000538938.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 591,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"protein_coding": false,
"strand": false,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"feature": "ENST00000681911.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "CRAT",
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"transcript": "ENST00000679520.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679520.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"transcript": "ENST00000680093.1",
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"feature": "ENST00000680093.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"gene_symbol": "CRAT",
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{
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"protein_coding": false,
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"3_prime_UTR_variant"
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},
{
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"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
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{
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"3_prime_UTR_variant"
],
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"gene_symbol": "CRAT",
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"feature": "ENST00000681911.1"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "CRAT",
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"transcript": "ENST00000467343.1",
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"biotype": "pseudogene",
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],
"gene_symbol": "CRAT",
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"dbsnp": "rs1318655829",
"frequency_reference_population": 0.0000013692384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136924,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9695420265197754,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.872,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8135,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.097,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001346546.2",
"gene_symbol": "CRAT",
"hgnc_id": 2342,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.1844T>C",
"hgvs_p": "p.Met615Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}