← 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: 10-69398758-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69398758&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69398758,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000359426.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "NM_001358263.1",
"protein_id": "NP_001345192.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 3036,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": "ENST00000643399.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "ENST00000643399.2",
"protein_id": "ENSP00000494664.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 3036,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": "NM_001358263.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2539G>A",
"hgvs_p": "p.Glu847Lys",
"transcript": "NM_000188.3",
"protein_id": "NP_000179.2",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 917,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": "ENST00000359426.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2539G>A",
"hgvs_p": "p.Glu847Lys",
"transcript": "ENST00000359426.7",
"protein_id": "ENSP00000352398.6",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 917,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": "NM_000188.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Glu882Lys",
"transcript": "NM_001322365.2",
"protein_id": "NP_001309294.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 952,
"cds_start": 2644,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "NM_001322364.2",
"protein_id": "NP_001309293.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "NM_033497.3",
"protein_id": "NP_277032.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "NM_033498.3",
"protein_id": "NP_277033.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "ENST00000436817.6",
"protein_id": "ENSP00000415949.2",
"transcript_support_level": 5,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2871,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2536G>A",
"hgvs_p": "p.Glu846Lys",
"transcript": "NM_001441139.1",
"protein_id": "NP_001428068.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 916,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2536G>A",
"hgvs_p": "p.Glu846Lys",
"transcript": "NM_033496.3",
"protein_id": "NP_277031.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 916,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2722,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2536G>A",
"hgvs_p": "p.Glu846Lys",
"transcript": "ENST00000298649.8",
"protein_id": "ENSP00000298649.3",
"transcript_support_level": 5,
"aa_start": 846,
"aa_end": null,
"aa_length": 916,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2530G>A",
"hgvs_p": "p.Glu844Lys",
"transcript": "NM_001441140.1",
"protein_id": "NP_001428069.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 914,
"cds_start": 2530,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2539G>A",
"hgvs_p": "p.Glu847Lys",
"transcript": "NM_001441141.1",
"protein_id": "NP_001428070.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 914,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2503G>A",
"hgvs_p": "p.Glu835Lys",
"transcript": "NM_033500.2",
"protein_id": "NP_277035.2",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 905,
"cds_start": 2503,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 3002,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2497G>A",
"hgvs_p": "p.Glu833Lys",
"transcript": "NM_001441142.1",
"protein_id": "NP_001428071.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 903,
"cds_start": 2497,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "NM_001322366.1",
"protein_id": "NP_001309295.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 889,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "NM_001441143.1",
"protein_id": "NP_001428072.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 889,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Glu819Lys",
"transcript": "ENST00000703945.1",
"protein_id": "ENSP00000515578.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 889,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2443G>A",
"hgvs_p": "p.Glu815Lys",
"transcript": "NM_001322367.1",
"protein_id": "NP_001309296.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 885,
"cds_start": 2443,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2419G>A",
"hgvs_p": "p.Glu807Lys",
"transcript": "NM_001441144.1",
"protein_id": "NP_001428073.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 877,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2419G>A",
"hgvs_p": "p.Glu807Lys",
"transcript": "NM_001441145.1",
"protein_id": "NP_001428074.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 877,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2520,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2419G>A",
"hgvs_p": "p.Glu807Lys",
"transcript": "ENST00000703954.1",
"protein_id": "ENSP00000515588.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 877,
"cds_start": 2419,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2383G>A",
"hgvs_p": "p.Glu795Lys",
"transcript": "NM_001441146.1",
"protein_id": "NP_001428075.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 865,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2383G>A",
"hgvs_p": "p.Glu795Lys",
"transcript": "ENST00000703949.1",
"protein_id": "ENSP00000515583.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 865,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2317G>A",
"hgvs_p": "p.Glu773Lys",
"transcript": "NM_001441147.1",
"protein_id": "NP_001428076.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 843,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2635,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2173G>A",
"hgvs_p": "p.Glu725Lys",
"transcript": "NM_001441149.1",
"protein_id": "NP_001428078.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 795,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2149G>A",
"hgvs_p": "p.Glu717Lys",
"transcript": "NM_001441150.1",
"protein_id": "NP_001428079.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 787,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2149G>A",
"hgvs_p": "p.Glu717Lys",
"transcript": "ENST00000703947.1",
"protein_id": "ENSP00000515581.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 787,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.1900G>A",
"hgvs_p": "p.Glu634Lys",
"transcript": "NM_001441151.1",
"protein_id": "NP_001428080.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 704,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Glu609Lys",
"transcript": "NM_001441152.1",
"protein_id": "NP_001428081.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 679,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1585G>A",
"hgvs_p": "p.Glu529Lys",
"transcript": "ENST00000703946.1",
"protein_id": "ENSP00000515579.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 599,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Glu511Lys",
"transcript": "NM_001441153.1",
"protein_id": "NP_001428082.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 581,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Glu477Lys",
"transcript": "ENST00000703952.1",
"protein_id": "ENSP00000515586.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 547,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "XM_024447969.2",
"protein_id": "XP_024303737.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "XM_047425136.1",
"protein_id": "XP_047281092.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2945,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Glu851Lys",
"transcript": "XM_047425137.1",
"protein_id": "XP_047281093.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 921,
"cds_start": 2551,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2999,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*2427G>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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*2156G>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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.3089G>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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.2540G>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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.2456G>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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*2427G>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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "n.*2156G>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": 16,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2376-2233G>A",
"hgvs_p": null,
"transcript": "NM_001441148.1",
"protein_id": "NP_001428077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3368,
"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": 16,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.2376-2233G>A",
"hgvs_p": null,
"transcript": "ENST00000470050.2",
"protein_id": "ENSP00000515580.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3362,
"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.1936-2233G>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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1266-2233G>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.*1299-2233G>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": "rs777849213",
"frequency_reference_population": 0.0000020521493,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.652859091758728,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.819,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2682,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000359426.7",
"gene_symbol": "HK1",
"hgnc_id": 4922,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2539G>A",
"hgvs_p": "p.Glu847Lys"
}
],
"clinvar_disease": "HK1-related disorder,Retinal dystrophy,Retinitis pigmentosa 79,See cases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:5",
"phenotype_combined": "Retinitis pigmentosa 79|not provided|Retinal dystrophy|See cases|HK1-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}