← Back to variant description
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: 5-112843828-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112843828&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 112843828,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000257430.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His",
"transcript": "NM_000038.6",
"protein_id": "NP_000029.2",
"transcript_support_level": null,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8234,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8293,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "ENST00000257430.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His",
"transcript": "ENST00000257430.9",
"protein_id": "ENSP00000257430.4",
"transcript_support_level": 5,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8234,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8293,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "NM_000038.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His",
"transcript": "ENST00000508376.6",
"protein_id": "ENSP00000427089.2",
"transcript_support_level": 1,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8234,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8391,
"cdna_end": null,
"cdna_length": 10619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258864",
"gene_hgnc_id": null,
"hgvs_c": "n.229-12821C>A",
"hgvs_p": null,
"transcript": "ENST00000520401.1",
"protein_id": "ENSP00000454861.1",
"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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8318C>A",
"hgvs_p": "p.Pro2773His",
"transcript": "NM_001407446.1",
"protein_id": "NP_001394375.1",
"transcript_support_level": null,
"aa_start": 2773,
"aa_end": null,
"aa_length": 2871,
"cds_start": 8318,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 8538,
"cdna_end": null,
"cdna_length": 10949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8288C>A",
"hgvs_p": "p.Pro2763His",
"transcript": "NM_001354896.2",
"protein_id": "NP_001341825.1",
"transcript_support_level": null,
"aa_start": 2763,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8288,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8347,
"cdna_end": null,
"cdna_length": 10758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8288C>A",
"hgvs_p": "p.Pro2763His",
"transcript": "NM_001407447.1",
"protein_id": "NP_001394376.1",
"transcript_support_level": null,
"aa_start": 2763,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8288,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8691,
"cdna_end": null,
"cdna_length": 11102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8288C>A",
"hgvs_p": "p.Pro2763His",
"transcript": "NM_001407448.1",
"protein_id": "NP_001394377.1",
"transcript_support_level": null,
"aa_start": 2763,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8288,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8458,
"cdna_end": null,
"cdna_length": 10869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8288C>A",
"hgvs_p": "p.Pro2763His",
"transcript": "NM_001407449.1",
"protein_id": "NP_001394378.1",
"transcript_support_level": null,
"aa_start": 2763,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8288,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8455,
"cdna_end": null,
"cdna_length": 10866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8288C>A",
"hgvs_p": "p.Pro2763His",
"transcript": "ENST00000504915.3",
"protein_id": "ENSP00000473355.2",
"transcript_support_level": 5,
"aa_start": 2763,
"aa_end": null,
"aa_length": 2861,
"cds_start": 8288,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 8344,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8264C>A",
"hgvs_p": "p.Pro2755His",
"transcript": "NM_001354897.2",
"protein_id": "NP_001341826.1",
"transcript_support_level": null,
"aa_start": 2755,
"aa_end": null,
"aa_length": 2853,
"cds_start": 8264,
"cds_end": null,
"cds_length": 8562,
"cdna_start": 8484,
"cdna_end": null,
"cdna_length": 10895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His",
"transcript": "NM_001127510.3",
"protein_id": "NP_001120982.1",
"transcript_support_level": null,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8234,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8401,
"cdna_end": null,
"cdna_length": 10812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His",
"transcript": "NM_001354895.2",
"protein_id": "NP_001341824.1",
"transcript_support_level": null,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8234,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8637,
"cdna_end": null,
"cdna_length": 11048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His",
"transcript": "NM_001407450.1",
"protein_id": "NP_001394379.1",
"transcript_support_level": null,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8234,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8404,
"cdna_end": null,
"cdna_length": 10815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His",
"transcript": "ENST00000509732.6",
"protein_id": "ENSP00000426541.2",
"transcript_support_level": 4,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8234,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8384,
"cdna_end": null,
"cdna_length": 10616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His",
"transcript": "ENST00000512211.7",
"protein_id": "ENSP00000423828.3",
"transcript_support_level": 2,
"aa_start": 2745,
"aa_end": null,
"aa_length": 2843,
"cds_start": 8234,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 8585,
"cdna_end": null,
"cdna_length": 9737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8213C>A",
"hgvs_p": "p.Pro2738His",
"transcript": "NM_001407451.1",
"protein_id": "NP_001394380.1",
"transcript_support_level": null,
"aa_start": 2738,
"aa_end": null,
"aa_length": 2836,
"cds_start": 8213,
"cds_end": null,
"cds_length": 8511,
"cdna_start": 8302,
"cdna_end": null,
"cdna_length": 10713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8204C>A",
"hgvs_p": "p.Pro2735His",
"transcript": "NM_001407452.1",
"protein_id": "NP_001394381.1",
"transcript_support_level": null,
"aa_start": 2735,
"aa_end": null,
"aa_length": 2833,
"cds_start": 8204,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 8607,
"cdna_end": null,
"cdna_length": 11018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8180C>A",
"hgvs_p": "p.Pro2727His",
"transcript": "NM_001127511.3",
"protein_id": "NP_001120983.2",
"transcript_support_level": null,
"aa_start": 2727,
"aa_end": null,
"aa_length": 2825,
"cds_start": 8180,
"cds_end": null,
"cds_length": 8478,
"cdna_start": 8400,
"cdna_end": null,
"cdna_length": 10811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8180C>A",
"hgvs_p": "p.Pro2727His",
"transcript": "ENST00000507379.6",
"protein_id": "ENSP00000423224.2",
"transcript_support_level": 2,
"aa_start": 2727,
"aa_end": null,
"aa_length": 2825,
"cds_start": 8180,
"cds_end": null,
"cds_length": 8478,
"cdna_start": 8376,
"cdna_end": null,
"cdna_length": 8674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8159C>A",
"hgvs_p": "p.Pro2720His",
"transcript": "NM_001354898.2",
"protein_id": "NP_001341827.1",
"transcript_support_level": null,
"aa_start": 2720,
"aa_end": null,
"aa_length": 2818,
"cds_start": 8159,
"cds_end": null,
"cds_length": 8457,
"cdna_start": 8248,
"cdna_end": null,
"cdna_length": 10659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8150C>A",
"hgvs_p": "p.Pro2717His",
"transcript": "NM_001354899.2",
"protein_id": "NP_001341828.1",
"transcript_support_level": null,
"aa_start": 2717,
"aa_end": null,
"aa_length": 2815,
"cds_start": 8150,
"cds_end": null,
"cds_length": 8448,
"cdna_start": 8209,
"cdna_end": null,
"cdna_length": 10620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8111C>A",
"hgvs_p": "p.Pro2704His",
"transcript": "NM_001354900.2",
"protein_id": "NP_001341829.1",
"transcript_support_level": null,
"aa_start": 2704,
"aa_end": null,
"aa_length": 2802,
"cds_start": 8111,
"cds_end": null,
"cds_length": 8409,
"cdna_start": 8194,
"cdna_end": null,
"cdna_length": 10605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8057C>A",
"hgvs_p": "p.Pro2686His",
"transcript": "NM_001354901.2",
"protein_id": "NP_001341830.1",
"transcript_support_level": null,
"aa_start": 2686,
"aa_end": null,
"aa_length": 2784,
"cds_start": 8057,
"cds_end": null,
"cds_length": 8355,
"cdna_start": 8140,
"cdna_end": null,
"cdna_length": 10551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.8057C>A",
"hgvs_p": "p.Pro2686His",
"transcript": "NM_001407453.1",
"protein_id": "NP_001394382.1",
"transcript_support_level": null,
"aa_start": 2686,
"aa_end": null,
"aa_length": 2784,
"cds_start": 8057,
"cds_end": null,
"cds_length": 8355,
"cdna_start": 8251,
"cdna_end": null,
"cdna_length": 10662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7985C>A",
"hgvs_p": "p.Pro2662His",
"transcript": "NM_001407454.1",
"protein_id": "NP_001394383.1",
"transcript_support_level": null,
"aa_start": 2662,
"aa_end": null,
"aa_length": 2760,
"cds_start": 7985,
"cds_end": null,
"cds_length": 8283,
"cdna_start": 8044,
"cdna_end": null,
"cdna_length": 10455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7985C>A",
"hgvs_p": "p.Pro2662His",
"transcript": "NM_001407455.1",
"protein_id": "NP_001394384.1",
"transcript_support_level": null,
"aa_start": 2662,
"aa_end": null,
"aa_length": 2760,
"cds_start": 7985,
"cds_end": null,
"cds_length": 8283,
"cdna_start": 8152,
"cdna_end": null,
"cdna_length": 10563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7985C>A",
"hgvs_p": "p.Pro2662His",
"transcript": "NM_001407456.1",
"protein_id": "NP_001394385.1",
"transcript_support_level": null,
"aa_start": 2662,
"aa_end": null,
"aa_length": 2760,
"cds_start": 7985,
"cds_end": null,
"cds_length": 8283,
"cdna_start": 8388,
"cdna_end": null,
"cdna_length": 10799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7985C>A",
"hgvs_p": "p.Pro2662His",
"transcript": "NM_001407457.1",
"protein_id": "NP_001394386.1",
"transcript_support_level": null,
"aa_start": 2662,
"aa_end": null,
"aa_length": 2760,
"cds_start": 7985,
"cds_end": null,
"cds_length": 8283,
"cdna_start": 8155,
"cdna_end": null,
"cdna_length": 10566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7961C>A",
"hgvs_p": "p.Pro2654His",
"transcript": "NM_001354902.2",
"protein_id": "NP_001341831.1",
"transcript_support_level": null,
"aa_start": 2654,
"aa_end": null,
"aa_length": 2752,
"cds_start": 7961,
"cds_end": null,
"cds_length": 8259,
"cdna_start": 8181,
"cdna_end": null,
"cdna_length": 10592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7931C>A",
"hgvs_p": "p.Pro2644His",
"transcript": "NM_001354903.2",
"protein_id": "NP_001341832.1",
"transcript_support_level": null,
"aa_start": 2644,
"aa_end": null,
"aa_length": 2742,
"cds_start": 7931,
"cds_end": null,
"cds_length": 8229,
"cdna_start": 7990,
"cdna_end": null,
"cdna_length": 10401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7931C>A",
"hgvs_p": "p.Pro2644His",
"transcript": "NM_001407458.1",
"protein_id": "NP_001394387.1",
"transcript_support_level": null,
"aa_start": 2644,
"aa_end": null,
"aa_length": 2742,
"cds_start": 7931,
"cds_end": null,
"cds_length": 8229,
"cdna_start": 8101,
"cdna_end": null,
"cdna_length": 10512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7931C>A",
"hgvs_p": "p.Pro2644His",
"transcript": "NM_001407459.1",
"protein_id": "NP_001394388.1",
"transcript_support_level": null,
"aa_start": 2644,
"aa_end": null,
"aa_length": 2742,
"cds_start": 7931,
"cds_end": null,
"cds_length": 8229,
"cdna_start": 8098,
"cdna_end": null,
"cdna_length": 10509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7931C>A",
"hgvs_p": "p.Pro2644His",
"transcript": "NM_001407460.1",
"protein_id": "NP_001394389.1",
"transcript_support_level": null,
"aa_start": 2644,
"aa_end": null,
"aa_length": 2742,
"cds_start": 7931,
"cds_end": null,
"cds_length": 8229,
"cdna_start": 8334,
"cdna_end": null,
"cdna_length": 10745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7916C>A",
"hgvs_p": "p.Pro2639His",
"transcript": "ENST00000713639.1",
"protein_id": "ENSP00000518940.1",
"transcript_support_level": null,
"aa_start": 2639,
"aa_end": null,
"aa_length": 2737,
"cds_start": 7916,
"cds_end": null,
"cds_length": 8214,
"cdna_start": 7996,
"cdna_end": null,
"cdna_length": 9148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7856C>A",
"hgvs_p": "p.Pro2619His",
"transcript": "NM_001354904.2",
"protein_id": "NP_001341833.1",
"transcript_support_level": null,
"aa_start": 2619,
"aa_end": null,
"aa_length": 2717,
"cds_start": 7856,
"cds_end": null,
"cds_length": 8154,
"cdna_start": 7945,
"cdna_end": null,
"cdna_length": 10356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7847C>A",
"hgvs_p": "p.Pro2616His",
"transcript": "NM_001407467.1",
"protein_id": "NP_001394396.1",
"transcript_support_level": null,
"aa_start": 2616,
"aa_end": null,
"aa_length": 2714,
"cds_start": 7847,
"cds_end": null,
"cds_length": 8145,
"cdna_start": 7906,
"cdna_end": null,
"cdna_length": 10317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7847C>A",
"hgvs_p": "p.Pro2616His",
"transcript": "NM_001407469.1",
"protein_id": "NP_001394398.1",
"transcript_support_level": null,
"aa_start": 2616,
"aa_end": null,
"aa_length": 2714,
"cds_start": 7847,
"cds_end": null,
"cds_length": 8145,
"cdna_start": 8250,
"cdna_end": null,
"cdna_length": 10661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7754C>A",
"hgvs_p": "p.Pro2585His",
"transcript": "NM_001354905.2",
"protein_id": "NP_001341834.1",
"transcript_support_level": null,
"aa_start": 2585,
"aa_end": null,
"aa_length": 2683,
"cds_start": 7754,
"cds_end": null,
"cds_length": 8052,
"cdna_start": 7837,
"cdna_end": null,
"cdna_length": 10248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7385C>A",
"hgvs_p": "p.Pro2462His",
"transcript": "NM_001354906.2",
"protein_id": "NP_001341835.1",
"transcript_support_level": null,
"aa_start": 2462,
"aa_end": null,
"aa_length": 2560,
"cds_start": 7385,
"cds_end": null,
"cds_length": 7683,
"cdna_start": 8479,
"cdna_end": null,
"cdna_length": 10890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7385C>A",
"hgvs_p": "p.Pro2462His",
"transcript": "NM_001407470.1",
"protein_id": "NP_001394399.1",
"transcript_support_level": null,
"aa_start": 2462,
"aa_end": null,
"aa_length": 2560,
"cds_start": 7385,
"cds_end": null,
"cds_length": 7683,
"cdna_start": 8823,
"cdna_end": null,
"cdna_length": 11234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7082C>A",
"hgvs_p": "p.Pro2361His",
"transcript": "NM_001407471.1",
"protein_id": "NP_001394400.1",
"transcript_support_level": null,
"aa_start": 2361,
"aa_end": null,
"aa_length": 2459,
"cds_start": 7082,
"cds_end": null,
"cds_length": 7380,
"cdna_start": 8176,
"cdna_end": null,
"cdna_length": 10587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.7082C>A",
"hgvs_p": "p.Pro2361His",
"transcript": "NM_001407472.1",
"protein_id": "NP_001394401.1",
"transcript_support_level": null,
"aa_start": 2361,
"aa_end": null,
"aa_length": 2459,
"cds_start": 7082,
"cds_end": null,
"cds_length": 7380,
"cdna_start": 8520,
"cdna_end": null,
"cdna_length": 10931,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.*8240C>A",
"hgvs_p": null,
"transcript": "ENST00000505350.2",
"protein_id": "ENSP00000481752.1",
"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": 10920,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.*7723C>A",
"hgvs_p": null,
"transcript": "ENST00000713637.1",
"protein_id": "ENSP00000518938.1",
"transcript_support_level": null,
"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": 9219,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.8069C>A",
"hgvs_p": null,
"transcript": "NR_176365.1",
"protein_id": null,
"transcript_support_level": null,
"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": 10480,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.8488C>A",
"hgvs_p": null,
"transcript": "NR_176366.1",
"protein_id": null,
"transcript_support_level": null,
"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": 10899,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.*6216C>A",
"hgvs_p": null,
"transcript": "ENST00000713638.1",
"protein_id": "ENSP00000518939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8702,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.*8240C>A",
"hgvs_p": null,
"transcript": "ENST00000505350.2",
"protein_id": "ENSP00000481752.1",
"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": 10920,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.*7723C>A",
"hgvs_p": null,
"transcript": "ENST00000713637.1",
"protein_id": "ENSP00000518938.1",
"transcript_support_level": null,
"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": 9219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"dbsnp": "rs759421641",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2510741055011749,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.0967,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.171,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000257430.9",
"gene_symbol": "APC",
"hgnc_id": 583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.8234C>A",
"hgvs_p": "p.Pro2745His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000520401.1",
"gene_symbol": "ENSG00000258864",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.229-12821C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Classic or attenuated familial adenomatous polyposis,Familial adenomatous polyposis 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Classic or attenuated familial adenomatous polyposis|Familial adenomatous polyposis 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}