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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: 14-64449468-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64449468&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64449468,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001364837.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val",
"transcript": "NM_005956.4",
"protein_id": "NP_005947.3",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 935,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652337.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005956.4"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val",
"transcript": "ENST00000652337.1",
"protein_id": "ENSP00000498336.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 935,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005956.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB25",
"gene_hgnc_id": 13112,
"hgvs_c": "c.*83T>A",
"hgvs_p": null,
"transcript": "ENST00000555220.5",
"protein_id": "ENSP00000450718.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555220.5"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val",
"transcript": "NM_001364837.1",
"protein_id": "NP_001351766.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 964,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364837.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val",
"transcript": "ENST00000545908.6",
"protein_id": "ENSP00000438588.2",
"transcript_support_level": 2,
"aa_start": 768,
"aa_end": null,
"aa_length": 964,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545908.6"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2384A>T",
"hgvs_p": "p.Asp795Val",
"transcript": "ENST00000900031.1",
"protein_id": "ENSP00000570090.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 962,
"cds_start": 2384,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900031.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2354A>T",
"hgvs_p": "p.Asp785Val",
"transcript": "ENST00000940490.1",
"protein_id": "ENSP00000610549.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 952,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940490.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val",
"transcript": "ENST00000940495.1",
"protein_id": "ENSP00000610554.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 935,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940495.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val",
"transcript": "ENST00000941180.1",
"protein_id": "ENSP00000611239.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 935,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941180.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2294A>T",
"hgvs_p": "p.Asp765Val",
"transcript": "ENST00000900023.1",
"protein_id": "ENSP00000570082.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 932,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900023.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2276A>T",
"hgvs_p": "p.Asp759Val",
"transcript": "ENST00000940488.1",
"protein_id": "ENSP00000610547.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 926,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940488.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val",
"transcript": "ENST00000557370.3",
"protein_id": "ENSP00000477199.2",
"transcript_support_level": 2,
"aa_start": 768,
"aa_end": null,
"aa_length": 922,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557370.3"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2234A>T",
"hgvs_p": "p.Asp745Val",
"transcript": "ENST00000900025.1",
"protein_id": "ENSP00000570084.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 912,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900025.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2162A>T",
"hgvs_p": "p.Asp721Val",
"transcript": "ENST00000940494.1",
"protein_id": "ENSP00000610553.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 888,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940494.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2156A>T",
"hgvs_p": "p.Asp719Val",
"transcript": "ENST00000940489.1",
"protein_id": "ENSP00000610548.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 886,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940489.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val",
"transcript": "ENST00000697168.1",
"protein_id": "ENSP00000513156.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 884,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697168.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2150A>T",
"hgvs_p": "p.Asp717Val",
"transcript": "ENST00000940486.1",
"protein_id": "ENSP00000610545.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 884,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940486.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2093A>T",
"hgvs_p": "p.Asp698Val",
"transcript": "ENST00000940485.1",
"protein_id": "ENSP00000610544.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 865,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940485.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2063A>T",
"hgvs_p": "p.Asp688Val",
"transcript": "ENST00000900024.1",
"protein_id": "ENSP00000570083.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 855,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900024.1"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2060A>T",
"hgvs_p": "p.Asp687Val",
"transcript": "ENST00000554768.6",
"protein_id": "ENSP00000477501.2",
"transcript_support_level": 4,
"aa_start": 687,
"aa_end": null,
"aa_length": 854,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554768.6"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2060A>T",
"hgvs_p": "p.Asp687Val",
"transcript": "ENST00000557539.2",
"protein_id": "ENSP00000476468.2",
"transcript_support_level": 4,
"aa_start": 687,
"aa_end": null,
"aa_length": 854,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557539.2"
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2060A>T",
"hgvs_p": "p.Asp687Val",
"transcript": "ENST00000697173.1",
"protein_id": "ENSP00000513159.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 854,
"cds_start": 2060,
"cds_end": null,
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{
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"strand": true,
"consequences": [
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"feature": "ENST00000697169.1"
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{
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"biotype": "retained_intron",
"feature": "ENST00000697170.1"
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{
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"strand": true,
"consequences": [
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697171.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
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"feature": "ENST00000697175.1"
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{
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"exon_count": 11,
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"feature": "ENST00000697177.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"gene_symbol": "MTHFD1",
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{
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],
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{
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"strand": true,
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"gene_symbol": "MTHFD1",
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"feature": "ENST00000697175.1"
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{
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"intron_variant"
],
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"feature": "ENST00000697176.1"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "MTHFD1",
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"transcript": "ENST00000556284.1",
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"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000556284.1"
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],
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"dbsnp": "rs1371878284",
"frequency_reference_population": 0.0000013685263,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136853,
"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": 0.6018419861793518,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.223,
"revel_prediction": "Benign",
"alphamissense_score": 0.1058,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.973,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001364837.1",
"gene_symbol": "MTHFD1",
"hgnc_id": 7432,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2303A>T",
"hgvs_p": "p.Asp768Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001304508.1",
"gene_symbol": "ZBTB25",
"hgnc_id": 13112,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*83T>A",
"hgvs_p": null
}
],
"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
}