← 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: 16-72060352-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72060352&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 72060352,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005143.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.683A>C",
"hgvs_p": "p.Lys228Thr",
"transcript": "NM_005143.5",
"protein_id": "NP_005134.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 406,
"cds_start": 683,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355906.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005143.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.683A>C",
"hgvs_p": "p.Lys228Thr",
"transcript": "ENST00000355906.10",
"protein_id": "ENSP00000348170.5",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 406,
"cds_start": 683,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005143.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355906.10"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.506A>C",
"hgvs_p": "p.Lys169Thr",
"transcript": "ENST00000398131.6",
"protein_id": "ENSP00000381199.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 347,
"cds_start": 506,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398131.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.506A>C",
"hgvs_p": "p.Lys169Thr",
"transcript": "ENST00000565574.5",
"protein_id": "ENSP00000454966.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 347,
"cds_start": 506,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565574.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.506A>C",
"hgvs_p": "p.Lys169Thr",
"transcript": "ENST00000570083.5",
"protein_id": "ENSP00000457629.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 347,
"cds_start": 506,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570083.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310525",
"gene_hgnc_id": null,
"hgvs_c": "n.285-15995T>G",
"hgvs_p": null,
"transcript": "ENST00000562153.6",
"protein_id": "ENSP00000454635.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562153.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.899A>C",
"hgvs_p": "p.Lys300Thr",
"transcript": "ENST00000888281.1",
"protein_id": "ENSP00000558340.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 478,
"cds_start": 899,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888281.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.836A>C",
"hgvs_p": "p.Lys279Thr",
"transcript": "ENST00000888279.1",
"protein_id": "ENSP00000558338.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 457,
"cds_start": 836,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888279.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.791A>C",
"hgvs_p": "p.Lys264Thr",
"transcript": "ENST00000357763.8",
"protein_id": "ENSP00000350406.5",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 442,
"cds_start": 791,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357763.8"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.791A>C",
"hgvs_p": "p.Lys264Thr",
"transcript": "ENST00000888266.1",
"protein_id": "ENSP00000558325.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 442,
"cds_start": 791,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888266.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.788A>C",
"hgvs_p": "p.Lys263Thr",
"transcript": "ENST00000955434.1",
"protein_id": "ENSP00000625493.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 441,
"cds_start": 788,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955434.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.731A>C",
"hgvs_p": "p.Lys244Thr",
"transcript": "ENST00000888269.1",
"protein_id": "ENSP00000558328.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 422,
"cds_start": 731,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888269.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.731A>C",
"hgvs_p": "p.Lys244Thr",
"transcript": "ENST00000888277.1",
"protein_id": "ENSP00000558336.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 422,
"cds_start": 731,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888277.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.728A>C",
"hgvs_p": "p.Lys243Thr",
"transcript": "ENST00000888271.1",
"protein_id": "ENSP00000558330.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 421,
"cds_start": 728,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888271.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.728A>C",
"hgvs_p": "p.Lys243Thr",
"transcript": "ENST00000888275.1",
"protein_id": "ENSP00000558334.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 421,
"cds_start": 728,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888275.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.728A>C",
"hgvs_p": "p.Lys243Thr",
"transcript": "ENST00000888276.1",
"protein_id": "ENSP00000558335.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 421,
"cds_start": 728,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888276.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.725A>C",
"hgvs_p": "p.Lys242Thr",
"transcript": "ENST00000888273.1",
"protein_id": "ENSP00000558332.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 420,
"cds_start": 725,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888273.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.725A>C",
"hgvs_p": "p.Lys242Thr",
"transcript": "ENST00000888280.1",
"protein_id": "ENSP00000558339.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 420,
"cds_start": 725,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888280.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.680A>C",
"hgvs_p": "p.Lys227Thr",
"transcript": "ENST00000888267.1",
"protein_id": "ENSP00000558326.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 405,
"cds_start": 680,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888267.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.674A>C",
"hgvs_p": "p.Lys225Thr",
"transcript": "ENST00000567185.7",
"protein_id": "ENSP00000464070.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 403,
"cds_start": 674,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567185.7"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.671A>C",
"hgvs_p": "p.Lys224Thr",
"transcript": "ENST00000888274.1",
"protein_id": "ENSP00000558333.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 402,
"cds_start": 671,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888274.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Lys205Thr",
"transcript": "ENST00000888278.1",
"protein_id": "ENSP00000558337.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 383,
"cds_start": 614,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888278.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Lys203Thr",
"transcript": "ENST00000888268.1",
"protein_id": "ENSP00000558327.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 381,
"cds_start": 608,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888268.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Lys203Thr",
"transcript": "ENST00000888270.1",
"protein_id": "ENSP00000558329.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 381,
"cds_start": 608,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888270.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Lys186Thr",
"transcript": "ENST00000567612.2",
"protein_id": "ENSP00000463491.1",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 364,
"cds_start": 557,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567612.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.Lys185Thr",
"transcript": "ENST00000888272.1",
"protein_id": "ENSP00000558331.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 363,
"cds_start": 554,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888272.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.506A>C",
"hgvs_p": "p.Lys169Thr",
"transcript": "NM_001126102.3",
"protein_id": "NP_001119574.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 347,
"cds_start": 506,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126102.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.506A>C",
"hgvs_p": "p.Lys169Thr",
"transcript": "NM_001318138.2",
"protein_id": "NP_001305067.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 347,
"cds_start": 506,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318138.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.503A>C",
"hgvs_p": "p.Lys168Thr",
"transcript": "ENST00000955432.1",
"protein_id": "ENSP00000625491.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 346,
"cds_start": 503,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955432.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.431A>C",
"hgvs_p": "p.Lys144Thr",
"transcript": "ENST00000888282.1",
"protein_id": "ENSP00000558341.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 322,
"cds_start": 431,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888282.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Lys129Thr",
"transcript": "ENST00000955433.1",
"protein_id": "ENSP00000625492.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 307,
"cds_start": 386,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955433.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.386A>C",
"hgvs_p": "p.Lys129Thr",
"transcript": "ENST00000564499.5",
"protein_id": "ENSP00000456503.1",
"transcript_support_level": 3,
"aa_start": 129,
"aa_end": null,
"aa_length": 221,
"cds_start": 386,
"cds_end": null,
"cds_length": 668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564499.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.266-311A>C",
"hgvs_p": null,
"transcript": "ENST00000562526.5",
"protein_id": "ENSP00000454413.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562526.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "n.2322A>C",
"hgvs_p": null,
"transcript": "ENST00000566821.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000566821.1"
}
],
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"dbsnp": null,
"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": 0.0729459822177887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.1224,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.175,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005143.5",
"gene_symbol": "HP",
"hgnc_id": 5141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.683A>C",
"hgvs_p": "p.Lys228Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000562153.6",
"gene_symbol": "ENSG00000310525",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.285-15995T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}