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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: 16-67877614-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67877614&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67877614,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001427345.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "NM_014329.5",
"protein_id": "NP_055144.3",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1401,
"cds_start": 747,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358933.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014329.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000358933.10",
"protein_id": "ENSP00000351811.5",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 1401,
"cds_start": 747,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014329.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358933.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "n.126T>C",
"hgvs_p": null,
"transcript": "ENST00000573992.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000573992.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "NM_001427345.1",
"protein_id": "NP_001414274.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1437,
"cds_start": 747,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001427345.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851723.1",
"protein_id": "ENSP00000521782.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1437,
"cds_start": 747,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851723.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.783T>C",
"hgvs_p": "p.Cys261Cys",
"transcript": "ENST00000936215.1",
"protein_id": "ENSP00000606274.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 1413,
"cds_start": 783,
"cds_end": null,
"cds_length": 4242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936215.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000969098.1",
"protein_id": "ENSP00000639157.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1412,
"cds_start": 747,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969098.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000936216.1",
"protein_id": "ENSP00000606275.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1410,
"cds_start": 747,
"cds_end": null,
"cds_length": 4233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936216.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851725.1",
"protein_id": "ENSP00000521784.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1407,
"cds_start": 747,
"cds_end": null,
"cds_length": 4224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851725.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851722.1",
"protein_id": "ENSP00000521781.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1406,
"cds_start": 747,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851722.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851721.1",
"protein_id": "ENSP00000521780.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1405,
"cds_start": 747,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851721.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851720.1",
"protein_id": "ENSP00000521779.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1399,
"cds_start": 747,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851720.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000969096.1",
"protein_id": "ENSP00000639155.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1395,
"cds_start": 747,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969096.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000936214.1",
"protein_id": "ENSP00000606273.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1386,
"cds_start": 747,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936214.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851726.1",
"protein_id": "ENSP00000521785.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1376,
"cds_start": 747,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851726.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851724.1",
"protein_id": "ENSP00000521783.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1374,
"cds_start": 747,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851724.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851727.1",
"protein_id": "ENSP00000521786.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1358,
"cds_start": 747,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851727.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851719.1",
"protein_id": "ENSP00000521778.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1344,
"cds_start": 747,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851719.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Cys192Cys",
"transcript": "ENST00000851728.1",
"protein_id": "ENSP00000521787.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1344,
"cds_start": 576,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851728.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000851718.1",
"protein_id": "ENSP00000521777.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1310,
"cds_start": 747,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851718.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys",
"transcript": "ENST00000969097.1",
"protein_id": "ENSP00000639156.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 1296,
"cds_start": 747,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969097.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDC4",
"gene_hgnc_id": 17157,
"hgvs_c": "n.752T>C",
"hgvs_p": null,
"transcript": "ENST00000536072.6",
"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,
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{
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{
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"strand": true,
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"gene_symbol": "EDC4",
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"transcript": "ENST00000574770.5",
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"biotype": "pseudogene",
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],
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"dbsnp": "rs8060686",
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"hom_count_reference_population": 42035,
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"gnomad_exomes_af": 0.18913,
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"gnomad_genomes_ac": 47418,
"gnomad_exomes_homalt": 31407,
"gnomad_genomes_homalt": 10628,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.38,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001427345.1",
"gene_symbol": "EDC4",
"hgnc_id": 17157,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Cys249Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}