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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: 15-38494477-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=38494477&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 38494477,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000310803.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2164C>A",
"hgvs_p": "p.Arg722Arg",
"transcript": "NM_005739.4",
"protein_id": "NP_005730.2",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 797,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": "ENST00000310803.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2164C>A",
"hgvs_p": "p.Arg722Arg",
"transcript": "ENST00000310803.10",
"protein_id": "ENSP00000310244.5",
"transcript_support_level": 1,
"aa_start": 722,
"aa_end": null,
"aa_length": 797,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": "NM_005739.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2059C>A",
"hgvs_p": "p.Arg687Arg",
"transcript": "ENST00000450598.6",
"protein_id": "ENSP00000388540.2",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 762,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 2296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Arg674Arg",
"transcript": "ENST00000558432.5",
"protein_id": "ENSP00000453583.2",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 749,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 2895,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "n.*468C>A",
"hgvs_p": null,
"transcript": "ENST00000414708.6",
"protein_id": "ENSP00000413105.2",
"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": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "n.*468C>A",
"hgvs_p": null,
"transcript": "ENST00000414708.6",
"protein_id": "ENSP00000413105.2",
"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": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.1769-3789C>A",
"hgvs_p": null,
"transcript": "ENST00000559830.5",
"protein_id": "ENSP00000452721.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.1616-3789C>A",
"hgvs_p": null,
"transcript": "ENST00000558164.5",
"protein_id": "ENSP00000454164.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": -4,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2317C>A",
"hgvs_p": "p.Arg773Arg",
"transcript": "ENST00000561180.5",
"protein_id": "ENSP00000452859.1",
"transcript_support_level": 2,
"aa_start": 773,
"aa_end": null,
"aa_length": 848,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2203C>A",
"hgvs_p": "p.Arg735Arg",
"transcript": "ENST00000697782.1",
"protein_id": "ENSP00000513437.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 810,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 4959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2059C>A",
"hgvs_p": "p.Arg687Arg",
"transcript": "NM_001128602.2",
"protein_id": "NP_001122074.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 762,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 4926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2047C>A",
"hgvs_p": "p.Arg683Arg",
"transcript": "ENST00000697783.1",
"protein_id": "ENSP00000513438.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 758,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2129,
"cdna_end": null,
"cdna_length": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Arg674Arg",
"transcript": "ENST00000558418.6",
"protein_id": "ENSP00000453905.2",
"transcript_support_level": 4,
"aa_start": 674,
"aa_end": null,
"aa_length": 749,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Arg674Arg",
"transcript": "ENST00000561117.6",
"protein_id": "ENSP00000454005.2",
"transcript_support_level": 4,
"aa_start": 674,
"aa_end": null,
"aa_length": 749,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Arg674Arg",
"transcript": "ENST00000697784.1",
"protein_id": "ENSP00000513439.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 749,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Arg674Arg",
"transcript": "ENST00000697785.1",
"protein_id": "ENSP00000513440.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 749,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.1798C>A",
"hgvs_p": "p.Arg600Arg",
"transcript": "ENST00000697780.1",
"protein_id": "ENSP00000513436.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 675,
"cds_start": 1798,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2251C>A",
"hgvs_p": "p.Arg751Arg",
"transcript": "XM_047432073.1",
"protein_id": "XP_047288029.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 826,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2146C>A",
"hgvs_p": "p.Arg716Arg",
"transcript": "XM_047432074.1",
"protein_id": "XP_047288030.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 791,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 5313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "c.2098C>A",
"hgvs_p": "p.Arg700Arg",
"transcript": "XM_047432075.1",
"protein_id": "XP_047288031.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 775,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2584,
"cdna_end": null,
"cdna_length": 5265,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "n.*395C>A",
"hgvs_p": null,
"transcript": "ENST00000557875.1",
"protein_id": "ENSP00000453729.1",
"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": 792,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286786",
"gene_hgnc_id": null,
"hgvs_c": "n.1170G>T",
"hgvs_p": null,
"transcript": "ENST00000661802.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6449,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRP1",
"gene_hgnc_id": 9878,
"hgvs_c": "n.1836C>A",
"hgvs_p": null,
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{
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{
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],
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},
{
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},
{
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],
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}
],
"gene_symbol": "RASGRP1",
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"dbsnp": "rs1045163521",
"frequency_reference_population": 0.000006832816,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.00000548789,
"gnomad_genomes_af": 0.000019721,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 3,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.461,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000310803.10",
"gene_symbol": "RASGRP1",
"hgnc_id": 9878,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2164C>A",
"hgvs_p": "p.Arg722Arg"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000661802.1",
"gene_symbol": "ENSG00000286786",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1170G>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}