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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: 5-172968481-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=172968481&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 172968481,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016093.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "NM_016093.4",
"protein_id": "NP_057177.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 722,
"mane_select": "ENST00000265100.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016093.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000265100.6",
"protein_id": "ENSP00000265100.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 722,
"mane_select": "NM_016093.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265100.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000519156.1",
"protein_id": "ENSP00000430673.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 127,
"cds_start": 191,
"cds_end": null,
"cds_length": 384,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519156.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "NM_001317980.2",
"protein_id": "NP_001304909.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317980.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "NM_001317981.2",
"protein_id": "NP_001304910.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317981.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "NM_001317982.2",
"protein_id": "NP_001304911.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317982.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000519239.5",
"protein_id": "ENSP00000430147.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519239.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000519974.5",
"protein_id": "ENSP00000428177.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519974.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000521476.5",
"protein_id": "ENSP00000428223.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521476.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000906540.1",
"protein_id": "ENSP00000576599.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906540.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000906541.1",
"protein_id": "ENSP00000576600.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906541.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000935963.1",
"protein_id": "ENSP00000606022.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935963.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000935964.1",
"protein_id": "ENSP00000606023.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935964.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000935966.1",
"protein_id": "ENSP00000606025.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935966.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000935967.1",
"protein_id": "ENSP00000606026.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935967.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000935968.1",
"protein_id": "ENSP00000606027.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935968.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000935969.1",
"protein_id": "ENSP00000606028.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935969.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000971027.1",
"protein_id": "ENSP00000641086.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971027.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "ENST00000971028.1",
"protein_id": "ENSP00000641087.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971028.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Gly62Ala",
"transcript": "ENST00000935970.1",
"protein_id": "ENSP00000606029.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 143,
"cds_start": 185,
"cds_end": null,
"cds_length": 432,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935970.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "XM_011534565.3",
"protein_id": "XP_011532867.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534565.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "XM_017009519.3",
"protein_id": "XP_016865008.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
"aa_ref": "G",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26L1",
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"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala",
"transcript": "XM_017009520.2",
"protein_id": "XP_016865009.1",
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"aa_start": 64,
"aa_end": null,
"aa_length": 145,
"cds_start": 191,
"cds_end": null,
"cds_length": 438,
"cdna_start": 259,
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"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009520.2"
},
{
"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": 3,
"intron_rank": 2,
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"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"hgvs_c": "c.169-932G>C",
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"transcript": "ENST00000935965.1",
"protein_id": "ENSP00000606024.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935965.1"
}
],
"gene_symbol": "RPL26L1",
"gene_hgnc_id": 17050,
"dbsnp": "rs1179448621",
"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": 0.9017231464385986,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7067,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.571,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016093.4",
"gene_symbol": "RPL26L1",
"hgnc_id": 17050,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Gly64Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}