← 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: 10-69395056-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69395056&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69395056,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359426.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "NM_001358263.1",
"protein_id": "NP_001345192.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": "ENST00000643399.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "ENST00000643399.2",
"protein_id": "ENSP00000494664.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": "NM_001358263.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Leu776Met",
"transcript": "NM_000188.3",
"protein_id": "NP_000179.2",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 917,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": "ENST00000359426.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Leu776Met",
"transcript": "ENST00000359426.7",
"protein_id": "ENSP00000352398.6",
"transcript_support_level": 1,
"aa_start": 776,
"aa_end": null,
"aa_length": 917,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": "NM_000188.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2431C>A",
"hgvs_p": "p.Leu811Met",
"transcript": "NM_001322365.2",
"protein_id": "NP_001309294.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 952,
"cds_start": 2431,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "NM_001322364.2",
"protein_id": "NP_001309293.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "NM_033497.3",
"protein_id": "NP_277032.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "NM_033498.3",
"protein_id": "NP_277033.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "ENST00000436817.6",
"protein_id": "ENSP00000415949.2",
"transcript_support_level": 5,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2323C>A",
"hgvs_p": "p.Leu775Met",
"transcript": "NM_001441139.1",
"protein_id": "NP_001428068.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 916,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2323C>A",
"hgvs_p": "p.Leu775Met",
"transcript": "NM_033496.3",
"protein_id": "NP_277031.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 916,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2323C>A",
"hgvs_p": "p.Leu775Met",
"transcript": "ENST00000298649.8",
"protein_id": "ENSP00000298649.3",
"transcript_support_level": 5,
"aa_start": 775,
"aa_end": null,
"aa_length": 916,
"cds_start": 2323,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2317C>A",
"hgvs_p": "p.Leu773Met",
"transcript": "NM_001441140.1",
"protein_id": "NP_001428069.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 914,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Leu776Met",
"transcript": "NM_001441141.1",
"protein_id": "NP_001428070.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 914,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2290C>A",
"hgvs_p": "p.Leu764Met",
"transcript": "NM_033500.2",
"protein_id": "NP_277035.2",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 905,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2789,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2284C>A",
"hgvs_p": "p.Leu762Met",
"transcript": "NM_001441142.1",
"protein_id": "NP_001428071.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 903,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2242C>A",
"hgvs_p": "p.Leu748Met",
"transcript": "NM_001322366.1",
"protein_id": "NP_001309295.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 889,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2242C>A",
"hgvs_p": "p.Leu748Met",
"transcript": "NM_001441143.1",
"protein_id": "NP_001428072.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 889,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2242C>A",
"hgvs_p": "p.Leu748Met",
"transcript": "ENST00000703945.1",
"protein_id": "ENSP00000515578.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 889,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2230C>A",
"hgvs_p": "p.Leu744Met",
"transcript": "NM_001322367.1",
"protein_id": "NP_001309296.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 885,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2206C>A",
"hgvs_p": "p.Leu736Met",
"transcript": "NM_001441144.1",
"protein_id": "NP_001428073.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 877,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2206C>A",
"hgvs_p": "p.Leu736Met",
"transcript": "NM_001441145.1",
"protein_id": "NP_001428074.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 877,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2206C>A",
"hgvs_p": "p.Leu736Met",
"transcript": "ENST00000703954.1",
"protein_id": "ENSP00000515588.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 877,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2104C>A",
"hgvs_p": "p.Leu702Met",
"transcript": "NM_001441147.1",
"protein_id": "NP_001428076.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 843,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Leu776Met",
"transcript": "NM_001441148.1",
"protein_id": "NP_001428077.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 839,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Leu776Met",
"transcript": "ENST00000470050.2",
"protein_id": "ENSP00000515580.1",
"transcript_support_level": 5,
"aa_start": 776,
"aa_end": null,
"aa_length": 839,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1960C>A",
"hgvs_p": "p.Leu654Met",
"transcript": "NM_001441149.1",
"protein_id": "NP_001428078.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 795,
"cds_start": 1960,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1936C>A",
"hgvs_p": "p.Leu646Met",
"transcript": "NM_001441150.1",
"protein_id": "NP_001428079.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 787,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1936C>A",
"hgvs_p": "p.Leu646Met",
"transcript": "ENST00000703947.1",
"protein_id": "ENSP00000515581.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 787,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1687C>A",
"hgvs_p": "p.Leu563Met",
"transcript": "NM_001441151.1",
"protein_id": "NP_001428080.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 704,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1612C>A",
"hgvs_p": "p.Leu538Met",
"transcript": "NM_001441152.1",
"protein_id": "NP_001428081.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 679,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Leu458Met",
"transcript": "ENST00000703946.1",
"protein_id": "ENSP00000515579.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 599,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1318C>A",
"hgvs_p": "p.Leu440Met",
"transcript": "NM_001441153.1",
"protein_id": "NP_001428082.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 581,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "XM_024447969.2",
"protein_id": "XP_024303737.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2877,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "XM_047425136.1",
"protein_id": "XP_047281092.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2338C>A",
"hgvs_p": "p.Leu780Met",
"transcript": "XM_047425137.1",
"protein_id": "XP_047281093.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 921,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 3961,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*2214C>A",
"hgvs_p": null,
"transcript": "ENST00000493591.6",
"protein_id": "ENSP00000494917.1",
"transcript_support_level": 5,
"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": 3745,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*1943C>A",
"hgvs_p": null,
"transcript": "ENST00000703948.1",
"protein_id": "ENSP00000515582.1",
"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": 3441,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.2876C>A",
"hgvs_p": null,
"transcript": "ENST00000703955.1",
"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": 3894,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.2327C>A",
"hgvs_p": null,
"transcript": "NR_199804.1",
"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": 3502,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.2243C>A",
"hgvs_p": null,
"transcript": "NR_199805.1",
"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": 3418,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*2214C>A",
"hgvs_p": null,
"transcript": "ENST00000493591.6",
"protein_id": "ENSP00000494917.1",
"transcript_support_level": 5,
"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": 3745,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*1943C>A",
"hgvs_p": null,
"transcript": "ENST00000703948.1",
"protein_id": "ENSP00000515582.1",
"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": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2219+2748C>A",
"hgvs_p": null,
"transcript": "NM_001441146.1",
"protein_id": "NP_001428075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 865,
"cds_start": -4,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2219+2748C>A",
"hgvs_p": null,
"transcript": "ENST00000703949.1",
"protein_id": "ENSP00000515583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 865,
"cds_start": -4,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1936-5935C>A",
"hgvs_p": null,
"transcript": "ENST00000703950.1",
"protein_id": "ENSP00000515584.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1266-3539C>A",
"hgvs_p": null,
"transcript": "ENST00000703952.1",
"protein_id": "ENSP00000515586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1266-5935C>A",
"hgvs_p": null,
"transcript": "ENST00000703951.1",
"protein_id": "ENSP00000515585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*1298+5760C>A",
"hgvs_p": null,
"transcript": "ENST00000703953.1",
"protein_id": "ENSP00000515587.1",
"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": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"dbsnp": "rs1054203",
"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": 0.8286502957344055,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.759,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8339,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.741,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000359426.7",
"gene_symbol": "HK1",
"hgnc_id": 4922,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2326C>A",
"hgvs_p": "p.Leu776Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}