← 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: 13-26215577-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=26215577&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 26215577,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000381588.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "NM_005977.4",
"protein_id": "NP_005968.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": "ENST00000381588.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "ENST00000381588.9",
"protein_id": "ENSP00000371000.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": "NM_005977.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "ENST00000346166.7",
"protein_id": "ENSP00000342121.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "ENST00000381570.7",
"protein_id": "ENSP00000370982.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "n.665G>A",
"hgvs_p": null,
"transcript": "ENST00000468480.5",
"protein_id": null,
"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": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "NM_183043.3",
"protein_id": "NP_898864.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "NM_183044.3",
"protein_id": "NP_898865.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "NM_183045.1",
"protein_id": "NP_898866.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 142,
"cds_start": 305,
"cds_end": null,
"cds_length": 429,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_005266485.4",
"protein_id": "XP_005266542.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_005266486.3",
"protein_id": "XP_005266543.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_011535177.4",
"protein_id": "XP_011533479.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_024449390.2",
"protein_id": "XP_024305158.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 685,
"cds_start": 305,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_017020685.3",
"protein_id": "XP_016876174.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 176,
"cds_start": 305,
"cds_end": null,
"cds_length": 531,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_017020686.2",
"protein_id": "XP_016876175.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 176,
"cds_start": 305,
"cds_end": null,
"cds_length": 531,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_017020687.2",
"protein_id": "XP_016876176.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 176,
"cds_start": 305,
"cds_end": null,
"cds_length": 531,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_024449391.2",
"protein_id": "XP_024305159.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 176,
"cds_start": 305,
"cds_end": null,
"cds_length": 531,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_024449392.2",
"protein_id": "XP_024305160.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 176,
"cds_start": 305,
"cds_end": null,
"cds_length": 531,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_047430495.1",
"protein_id": "XP_047286451.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 176,
"cds_start": 305,
"cds_end": null,
"cds_length": 531,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_047430496.1",
"protein_id": "XP_047286452.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 176,
"cds_start": 305,
"cds_end": null,
"cds_length": 531,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_011535178.3",
"protein_id": "XP_011533480.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 142,
"cds_start": 305,
"cds_end": null,
"cds_length": 429,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_047430498.1",
"protein_id": "XP_047286454.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 142,
"cds_start": 305,
"cds_end": null,
"cds_length": 429,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_047430499.1",
"protein_id": "XP_047286455.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 142,
"cds_start": 305,
"cds_end": null,
"cds_length": 429,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 1338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys",
"transcript": "XM_047430500.1",
"protein_id": "XP_047286456.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 142,
"cds_start": 305,
"cds_end": null,
"cds_length": 429,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "n.417G>A",
"hgvs_p": null,
"transcript": "ENST00000498039.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.-60G>A",
"hgvs_p": null,
"transcript": "XM_047430494.1",
"protein_id": "XP_047286450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"dbsnp": "rs121434522",
"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": 0.08092328906059265,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0876,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.853,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000381588.9",
"gene_symbol": "RNF6",
"hgnc_id": 10069,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Lys"
}
],
"clinvar_disease": " somatic,Esophageal squamous cell carcinoma",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Esophageal squamous cell carcinoma, somatic",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}