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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: 9-97546305-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=97546305&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 97546305,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003275.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "NM_003275.4",
"protein_id": "NP_003266.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 359,
"cds_start": 241,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259365.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003275.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000259365.9",
"protein_id": "ENSP00000259365.3",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 359,
"cds_start": 241,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003275.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259365.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000395211.6",
"protein_id": "ENSP00000378637.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 359,
"cds_start": 241,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395211.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950655.1",
"protein_id": "ENSP00000620714.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 436,
"cds_start": 241,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950655.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000900211.1",
"protein_id": "ENSP00000570270.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 400,
"cds_start": 241,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900211.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000900215.1",
"protein_id": "ENSP00000570274.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 395,
"cds_start": 241,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900215.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950653.1",
"protein_id": "ENSP00000620712.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 392,
"cds_start": 241,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950653.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000900217.1",
"protein_id": "ENSP00000570276.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 390,
"cds_start": 241,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900217.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950654.1",
"protein_id": "ENSP00000620713.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 387,
"cds_start": 241,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950654.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "NM_001166116.2",
"protein_id": "NP_001159588.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 359,
"cds_start": 241,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166116.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000900218.1",
"protein_id": "ENSP00000570277.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 359,
"cds_start": 241,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900218.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950660.1",
"protein_id": "ENSP00000620719.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 359,
"cds_start": 241,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950660.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950661.1",
"protein_id": "ENSP00000620720.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 359,
"cds_start": 241,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950661.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950652.1",
"protein_id": "ENSP00000620711.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 357,
"cds_start": 241,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950652.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000900212.1",
"protein_id": "ENSP00000570271.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 351,
"cds_start": 241,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900212.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000900216.1",
"protein_id": "ENSP00000570275.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 335,
"cds_start": 241,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900216.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000900214.1",
"protein_id": "ENSP00000570273.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 329,
"cds_start": 241,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900214.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950657.1",
"protein_id": "ENSP00000620716.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 323,
"cds_start": 241,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950657.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950659.1",
"protein_id": "ENSP00000620718.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 319,
"cds_start": 241,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950659.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg",
"transcript": "ENST00000950658.1",
"protein_id": "ENSP00000620717.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 311,
"cds_start": 241,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950658.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.125-6976C>A",
"hgvs_p": null,
"transcript": "ENST00000900213.1",
"protein_id": "ENSP00000570272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900213.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.121-6981C>A",
"hgvs_p": null,
"transcript": "ENST00000937335.1",
"protein_id": "ENSP00000607394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937335.1"
},
{
"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": 4,
"intron_rank": 2,
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"gene_symbol": "TMOD1",
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"hgvs_c": "c.120+21997C>A",
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"transcript": "ENST00000950656.1",
"protein_id": "ENSP00000620715.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950656.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"hgvs_c": "c.-131-6976C>A",
"hgvs_p": null,
"transcript": "XM_047423825.1",
"protein_id": "XP_047279781.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423825.1"
}
],
"gene_symbol": "TMOD1",
"gene_hgnc_id": 11871,
"dbsnp": "rs766091627",
"frequency_reference_population": 6.84104e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84104e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.14000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.477,
"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,BP7",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003275.4",
"gene_symbol": "TMOD1",
"hgnc_id": 11871,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.241C>A",
"hgvs_p": "p.Arg81Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}