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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: 6-110892914-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110892914&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 110892914,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001634.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.713C>T",
"hgvs_p": "p.Thr238Ile",
"transcript": "NM_001634.6",
"protein_id": "NP_001625.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 334,
"cds_start": 713,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368885.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001634.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.713C>T",
"hgvs_p": "p.Thr238Ile",
"transcript": "ENST00000368885.8",
"protein_id": "ENSP00000357880.3",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 334,
"cds_start": 713,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001634.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368885.8"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "n.*249C>T",
"hgvs_p": null,
"transcript": "ENST00000451850.6",
"protein_id": "ENSP00000389988.3",
"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": "ENST00000451850.6"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "n.2357C>T",
"hgvs_p": null,
"transcript": "ENST00000612642.4",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000612642.4"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "n.*249C>T",
"hgvs_p": null,
"transcript": "ENST00000451850.6",
"protein_id": "ENSP00000389988.3",
"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": "ENST00000451850.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.713C>T",
"hgvs_p": "p.Thr238Ile",
"transcript": "ENST00000672937.2",
"protein_id": "ENSP00000500249.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 462,
"cds_start": 713,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672937.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Thr263Ile",
"transcript": "ENST00000940240.1",
"protein_id": "ENSP00000610299.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 359,
"cds_start": 788,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940240.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Thr237Ile",
"transcript": "ENST00000940238.1",
"protein_id": "ENSP00000610297.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 333,
"cds_start": 710,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940238.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Thr231Ile",
"transcript": "ENST00000851729.1",
"protein_id": "ENSP00000521788.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 327,
"cds_start": 692,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851729.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Ile",
"transcript": "ENST00000940237.1",
"protein_id": "ENSP00000610296.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 325,
"cds_start": 686,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940237.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Thr209Ile",
"transcript": "NM_001287214.1",
"protein_id": "NP_001274143.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 305,
"cds_start": 626,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287214.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.605C>T",
"hgvs_p": "p.Thr202Ile",
"transcript": "ENST00000940236.1",
"protein_id": "ENSP00000610295.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 298,
"cds_start": 605,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940236.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Ile",
"transcript": "NM_001287215.2",
"protein_id": "NP_001274144.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 265,
"cds_start": 506,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287215.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Ile",
"transcript": "NM_001393406.1",
"protein_id": "NP_001380335.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 265,
"cds_start": 506,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393406.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Ile",
"transcript": "ENST00000368876.2",
"protein_id": "ENSP00000357870.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 265,
"cds_start": 506,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368876.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Thr169Ile",
"transcript": "ENST00000368877.9",
"protein_id": "ENSP00000357871.6",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 265,
"cds_start": 506,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368877.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Ile",
"transcript": "NM_001393407.1",
"protein_id": "NP_001380336.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 217,
"cds_start": 362,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393407.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Thr121Ile",
"transcript": "NM_001393408.1",
"protein_id": "NP_001380337.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 217,
"cds_start": 362,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393408.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "NM_001287216.1",
"protein_id": "NP_001274145.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 214,
"cds_start": 353,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287216.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000675380.1",
"protein_id": "ENSP00000502112.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 214,
"cds_start": 353,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675380.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "c.708+87C>T",
"hgvs_p": null,
"transcript": "ENST00000940239.1",
"protein_id": "ENSP00000610298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "n.*27C>T",
"hgvs_p": null,
"transcript": "ENST00000465404.2",
"protein_id": "ENSP00000433396.2",
"transcript_support_level": 5,
"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": "ENST00000465404.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "n.1949C>T",
"hgvs_p": null,
"transcript": "ENST00000619590.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000619590.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "n.717C>T",
"hgvs_p": null,
"transcript": "NR_109768.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_109768.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "n.904C>T",
"hgvs_p": null,
"transcript": "NR_171681.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_171681.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"hgvs_c": "n.*27C>T",
"hgvs_p": null,
"transcript": "ENST00000465404.2",
"protein_id": "ENSP00000433396.2",
"transcript_support_level": 5,
"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": "ENST00000465404.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298809",
"gene_hgnc_id": null,
"hgvs_c": "n.130-8200G>A",
"hgvs_p": null,
"transcript": "ENST00000758068.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000758068.1"
}
],
"gene_symbol": "AMD1",
"gene_hgnc_id": 457,
"dbsnp": "rs146968037",
"frequency_reference_population": 0.000024785359,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000266807,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6396269202232361,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.359,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.394,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.48,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001634.6",
"gene_symbol": "AMD1",
"hgnc_id": 457,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.713C>T",
"hgvs_p": "p.Thr238Ile"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000758068.1",
"gene_symbol": "ENSG00000298809",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.130-8200G>A",
"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
}