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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: 11-77878990-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77878990&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77878990,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033547.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2851C>G",
"hgvs_p": "p.Pro951Ala",
"transcript": "NM_033547.4",
"protein_id": "NP_291025.3",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 963,
"cds_start": 2851,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000534064.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033547.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2851C>G",
"hgvs_p": "p.Pro951Ala",
"transcript": "ENST00000534064.6",
"protein_id": "ENSP00000434466.1",
"transcript_support_level": 1,
"aa_start": 951,
"aa_end": null,
"aa_length": 963,
"cds_start": 2851,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033547.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534064.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.328+1941G>C",
"hgvs_p": null,
"transcript": "ENST00000304716.12",
"protein_id": "ENSP00000307254.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304716.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.228+9173G>C",
"hgvs_p": null,
"transcript": "ENST00000532481.5",
"protein_id": "ENSP00000433293.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
"cds_start": null,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532481.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2762C>G",
"hgvs_p": null,
"transcript": "ENST00000433818.6",
"protein_id": "ENSP00000407787.2",
"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": "ENST00000433818.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "n.*2762C>G",
"hgvs_p": null,
"transcript": "ENST00000433818.6",
"protein_id": "ENSP00000407787.2",
"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": "ENST00000433818.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.3001C>G",
"hgvs_p": "p.Pro1001Ala",
"transcript": "ENST00000695102.1",
"protein_id": "ENSP00000511693.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1013,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695102.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2872C>G",
"hgvs_p": "p.Pro958Ala",
"transcript": "ENST00000889293.1",
"protein_id": "ENSP00000559352.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 970,
"cds_start": 2872,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889293.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2851C>G",
"hgvs_p": "p.Pro951Ala",
"transcript": "ENST00000696971.1",
"protein_id": "ENSP00000513007.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 963,
"cds_start": 2851,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696971.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2845C>G",
"hgvs_p": "p.Pro949Ala",
"transcript": "ENST00000889292.1",
"protein_id": "ENSP00000559351.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 961,
"cds_start": 2845,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889292.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2845C>G",
"hgvs_p": "p.Pro949Ala",
"transcript": "ENST00000925639.1",
"protein_id": "ENSP00000595698.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 961,
"cds_start": 2845,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925639.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2842C>G",
"hgvs_p": "p.Pro948Ala",
"transcript": "ENST00000942459.1",
"protein_id": "ENSP00000612518.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 960,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942459.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2821C>G",
"hgvs_p": "p.Pro941Ala",
"transcript": "ENST00000695310.1",
"protein_id": "ENSP00000511799.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 953,
"cds_start": 2821,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695310.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2815C>G",
"hgvs_p": "p.Pro939Ala",
"transcript": "ENST00000925645.1",
"protein_id": "ENSP00000595704.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 951,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925645.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2791C>G",
"hgvs_p": "p.Pro931Ala",
"transcript": "ENST00000695316.1",
"protein_id": "ENSP00000511801.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 943,
"cds_start": 2791,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695316.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2770C>G",
"hgvs_p": "p.Pro924Ala",
"transcript": "ENST00000695103.1",
"protein_id": "ENSP00000511694.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 936,
"cds_start": 2770,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695103.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2767C>G",
"hgvs_p": "p.Pro923Ala",
"transcript": "ENST00000925641.1",
"protein_id": "ENSP00000595700.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 935,
"cds_start": 2767,
"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": "ENST00000925641.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2719C>G",
"hgvs_p": "p.Pro907Ala",
"transcript": "ENST00000925643.1",
"protein_id": "ENSP00000595702.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 919,
"cds_start": 2719,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925643.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2674C>G",
"hgvs_p": "p.Pro892Ala",
"transcript": "ENST00000925644.1",
"protein_id": "ENSP00000595703.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 904,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925644.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2563C>G",
"hgvs_p": "p.Pro855Ala",
"transcript": "ENST00000942460.1",
"protein_id": "ENSP00000612519.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 867,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942460.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Pro841Ala",
"transcript": "ENST00000695308.1",
"protein_id": "ENSP00000511797.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 853,
"cds_start": 2521,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695308.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"hgvs_c": "c.2515C>G",
"hgvs_p": "p.Pro839Ala",
"transcript": "ENST00000695304.1",
"protein_id": "ENSP00000511793.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 851,
"cds_start": 2515,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"intron_rank": 1,
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"gene_symbol": "AAMDC",
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"transcript": "ENST00000529666.1",
"protein_id": "ENSP00000437120.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529666.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "INTS4",
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"transcript": "ENST00000695303.1",
"protein_id": "ENSP00000511792.1",
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"feature": "ENST00000695303.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "AAMDC",
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"hgvs_c": "n.345-5790G>C",
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"transcript": "NR_133637.3",
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"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": "pseudogene",
"feature": "NR_133637.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "AAMDC",
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"hgvs_c": "n.387-5790G>C",
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"transcript": "NR_171640.1",
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"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_171640.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "AAMDC",
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"hgvs_c": "n.463-5790G>C",
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"transcript": "NR_171642.1",
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "NR_171642.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "AAMDC",
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"hgvs_c": "n.444+1941G>C",
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"transcript": "NR_171643.1",
"protein_id": null,
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"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": "pseudogene",
"feature": "NR_171643.1"
}
],
"gene_symbol": "INTS4",
"gene_hgnc_id": 25048,
"dbsnp": "rs188994465",
"frequency_reference_population": 0.0000148691515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.00000752467,
"gnomad_genomes_af": 0.0000854016,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1020614504814148,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.0563,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.842,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_033547.4",
"gene_symbol": "INTS4",
"hgnc_id": 25048,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2851C>G",
"hgvs_p": "p.Pro951Ala"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001316957.3",
"gene_symbol": "AAMDC",
"hgnc_id": 30205,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.328+1941G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}