← 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: 16-47511750-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=47511750&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHKB",
"hgnc_id": 8927,
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_000293.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0618,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2697942852973938,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 511,
"cds_end": null,
"cds_length": 3282,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000293.3",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000323584.10",
"protein_coding": true,
"protein_id": "NP_000284.1",
"strand": true,
"transcript": "NM_000293.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 511,
"cds_end": null,
"cds_length": 3282,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000323584.10",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000293.3",
"protein_coding": true,
"protein_id": "ENSP00000313504.5",
"strand": true,
"transcript": "ENST00000323584.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "Y",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 659,
"cds_end": null,
"cds_length": 3261,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000566044.5",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Tyr157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456729.1",
"strand": true,
"transcript": "ENST00000566044.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000567402.5",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "n.506A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000567402.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Y",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 571,
"cds_end": null,
"cds_length": 3360,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940565.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.569A>C",
"hgvs_p": "p.Tyr190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610624.1",
"strand": true,
"transcript": "ENST00000940565.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "Y",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4357,
"cdna_start": 584,
"cds_end": null,
"cds_length": 3360,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970599.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.569A>C",
"hgvs_p": "p.Tyr190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640658.1",
"strand": true,
"transcript": "ENST00000970599.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 515,
"cds_end": null,
"cds_length": 3309,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970601.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640660.1",
"strand": true,
"transcript": "ENST00000970601.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 543,
"cds_end": null,
"cds_length": 3282,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363837.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350766.1",
"strand": true,
"transcript": "NM_001363837.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5464,
"cdna_start": 516,
"cds_end": null,
"cds_length": 3282,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000299167.12",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299167.8",
"strand": true,
"transcript": "ENST00000299167.12",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "Y",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 493,
"cds_end": null,
"cds_length": 3276,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970603.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.485A>C",
"hgvs_p": "p.Tyr162Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640662.1",
"strand": true,
"transcript": "ENST00000970603.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 511,
"cds_end": null,
"cds_length": 3267,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970604.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640663.1",
"strand": true,
"transcript": "ENST00000970604.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "Y",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5571,
"cdna_start": 623,
"cds_end": null,
"cds_length": 3261,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001031835.3",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Tyr157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027005.1",
"strand": true,
"transcript": "NM_001031835.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "Y",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3570,
"cdna_start": 623,
"cds_end": null,
"cds_length": 3243,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970606.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.569A>C",
"hgvs_p": "p.Tyr190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640665.1",
"strand": true,
"transcript": "ENST00000970606.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 521,
"cds_end": null,
"cds_length": 3204,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868353.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538412.1",
"strand": true,
"transcript": "ENST00000868353.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 543,
"cds_end": null,
"cds_length": 3204,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970600.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640659.1",
"strand": true,
"transcript": "ENST00000970600.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4408,
"cdna_start": 711,
"cds_end": null,
"cds_length": 3177,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868352.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538411.1",
"strand": true,
"transcript": "ENST00000868352.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 506,
"cds_end": null,
"cds_length": 3123,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970605.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640664.1",
"strand": true,
"transcript": "ENST00000970605.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4115,
"cdna_start": 522,
"cds_end": null,
"cds_length": 3102,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970598.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640657.1",
"strand": true,
"transcript": "ENST00000970598.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 995,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 511,
"cds_end": null,
"cds_length": 2988,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868354.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538413.1",
"strand": true,
"transcript": "ENST00000868354.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 941,
"aa_ref": "Y",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 506,
"cds_end": null,
"cds_length": 2826,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970602.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Tyr164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640661.1",
"strand": true,
"transcript": "ENST00000970602.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 228,
"aa_ref": "Y",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1032,
"cdna_start": 814,
"cds_end": null,
"cds_length": 688,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000566037.6",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.470A>C",
"hgvs_p": "p.Tyr157Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455664.2",
"strand": true,
"transcript": "ENST00000566037.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 797,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000570047.2",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "n.323A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461770.1",
"strand": true,
"transcript": "ENST00000570047.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4332,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000696809.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "n.470A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512887.1",
"strand": true,
"transcript": "ENST00000696809.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4492,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000699276.1",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "n.470A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514257.1",
"strand": true,
"transcript": "ENST00000699276.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565424.2",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "n.97-35683A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000565424.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 697,
"cdna_start": null,
"cds_end": null,
"cds_length": 451,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563376.5",
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"hgvs_c": "c.*19A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457905.1",
"strand": true,
"transcript": "ENST00000563376.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs144211929",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 8927,
"gene_symbol": "PHKB",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.574,
"pos": 47511750,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.53,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000293.3"
}
]
}