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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: 17-7633209-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7633209&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7633209,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000380450.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"transcript": "NM_001040.5",
"protein_id": "NP_001031.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 402,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": "ENST00000380450.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"transcript": "ENST00000380450.9",
"protein_id": "ENSP00000369816.4",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 402,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": "NM_001040.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Asp298Asn",
"transcript": "ENST00000340624.9",
"protein_id": "ENSP00000345675.6",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 344,
"cds_start": 892,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Asp298Asn",
"transcript": "ENST00000575314.5",
"protein_id": "ENSP00000458559.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 344,
"cds_start": 892,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.730G>A",
"hgvs_p": "p.Asp244Asn",
"transcript": "ENST00000572262.5",
"protein_id": "ENSP00000459999.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 290,
"cds_start": 730,
"cds_end": null,
"cds_length": 873,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Asp241Asn",
"transcript": "ENST00000441599.6",
"protein_id": "ENSP00000393426.2",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 287,
"cds_start": 721,
"cds_end": null,
"cds_length": 864,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Asp214Asn",
"transcript": "ENST00000576830.5",
"protein_id": "ENSP00000460219.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 260,
"cds_start": 640,
"cds_end": null,
"cds_length": 783,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.547G>A",
"hgvs_p": "p.Asp183Asn",
"transcript": "ENST00000570547.5",
"protein_id": "ENSP00000458875.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 229,
"cds_start": 547,
"cds_end": null,
"cds_length": 690,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Asp160Asn",
"transcript": "ENST00000576152.1",
"protein_id": "ENSP00000461743.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 206,
"cds_start": 478,
"cds_end": null,
"cds_length": 621,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Asp129Asn",
"transcript": "ENST00000576478.5",
"protein_id": "ENSP00000461133.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 175,
"cds_start": 385,
"cds_end": null,
"cds_length": 528,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Lys228Lys",
"transcript": "ENST00000574539.5",
"protein_id": "ENSP00000458181.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 235,
"cds_start": 684,
"cds_end": null,
"cds_length": 708,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.615G>A",
"hgvs_p": "p.Lys205Lys",
"transcript": "ENST00000571153.5",
"protein_id": "ENSP00000458858.1",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 212,
"cds_start": 615,
"cds_end": null,
"cds_length": 639,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Lys174Lys",
"transcript": "ENST00000576728.5",
"protein_id": "ENSP00000459620.1",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 181,
"cds_start": 522,
"cds_end": null,
"cds_length": 546,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.318G>A",
"hgvs_p": "p.Lys106Lys",
"transcript": "ENST00000575618.5",
"protein_id": "ENSP00000459826.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 113,
"cds_start": 318,
"cds_end": null,
"cds_length": 342,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.225G>A",
"hgvs_p": "p.Lys75Lys",
"transcript": "ENST00000572182.5",
"protein_id": "ENSP00000458816.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 82,
"cds_start": 225,
"cds_end": null,
"cds_length": 249,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 479,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "n.*1024G>A",
"hgvs_p": null,
"transcript": "ENST00000570527.5",
"protein_id": "ENSP00000461162.1",
"transcript_support_level": 1,
"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": 1382,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "n.*1024G>A",
"hgvs_p": null,
"transcript": "ENST00000570527.5",
"protein_id": "ENSP00000461162.1",
"transcript_support_level": 1,
"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": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Asp338Asn",
"transcript": "NM_001146279.3",
"protein_id": "NP_001139751.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 384,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Asp338Asn",
"transcript": "ENST00000575903.5",
"protein_id": "ENSP00000458973.1",
"transcript_support_level": 3,
"aa_start": 338,
"aa_end": null,
"aa_length": 384,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Asp298Asn",
"transcript": "NM_001289113.2",
"protein_id": "NP_001276042.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 344,
"cds_start": 892,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Asp298Asn",
"transcript": "NM_001289114.2",
"protein_id": "NP_001276043.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 344,
"cds_start": 892,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Asp241Asn",
"transcript": "NM_001146281.3",
"protein_id": "NP_001139753.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 287,
"cds_start": 721,
"cds_end": null,
"cds_length": 864,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SHBG",
"gene_hgnc_id": 10839,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Asp240Asn",
"transcript": "NM_001289116.2",
"protein_id": "NP_001276045.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 286,
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},
{
"aa_ref": "K",
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},
{
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{
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{
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},
{
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"3_prime_UTR_variant"
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}
],
"gene_symbol": "SHBG",
"gene_hgnc_id": 10839,
"dbsnp": "rs6259",
"frequency_reference_population": 0.107488684,
"hom_count_reference_population": 10370,
"allele_count_reference_population": 173456,
"gnomad_exomes_af": 0.110221,
"gnomad_genomes_af": 0.081253,
"gnomad_exomes_ac": 161088,
"gnomad_genomes_ac": 12368,
"gnomad_exomes_homalt": 9718,
"gnomad_genomes_homalt": 652,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0013456344604492188,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.0701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.08,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380450.9",
"gene_symbol": "SHBG",
"hgnc_id": 10839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn"
}
],
"clinvar_disease": "SHBG-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|SHBG-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}