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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: 14-21074403-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21074403&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21074403,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001278529.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "NM_018071.5",
"protein_id": "NP_060541.3",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1519,
"cds_start": 673,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298694.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018071.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000298694.9",
"protein_id": "ENSP00000298694.4",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 1519,
"cds_start": 673,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018071.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298694.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000555038.5",
"protein_id": "ENSP00000451335.1",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 556,
"cds_start": 673,
"cds_end": null,
"cds_length": 1672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555038.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "n.673C>T",
"hgvs_p": null,
"transcript": "ENST00000553709.5",
"protein_id": "ENSP00000452283.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000553709.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "n.673C>T",
"hgvs_p": null,
"transcript": "ENST00000556399.5",
"protein_id": "ENSP00000451655.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000556399.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.-1497C>T",
"hgvs_p": null,
"transcript": "NM_001278529.2",
"protein_id": "NP_001265458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278529.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.-1303C>T",
"hgvs_p": null,
"transcript": "NM_001278530.2",
"protein_id": "NP_001265459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": null,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278530.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000918639.1",
"protein_id": "ENSP00000588698.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1546,
"cds_start": 673,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918639.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000950137.1",
"protein_id": "ENSP00000620196.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1542,
"cds_start": 673,
"cds_end": null,
"cds_length": 4629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950137.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000918633.1",
"protein_id": "ENSP00000588692.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1529,
"cds_start": 673,
"cds_end": null,
"cds_length": 4590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918633.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000877989.1",
"protein_id": "ENSP00000548048.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1524,
"cds_start": 673,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877989.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000877993.1",
"protein_id": "ENSP00000548052.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1523,
"cds_start": 673,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877993.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000877998.1",
"protein_id": "ENSP00000548057.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1519,
"cds_start": 673,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877998.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000918636.1",
"protein_id": "ENSP00000588695.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1518,
"cds_start": 673,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918636.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000950138.1",
"protein_id": "ENSP00000620197.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1518,
"cds_start": 673,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950138.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000950140.1",
"protein_id": "ENSP00000620199.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1518,
"cds_start": 673,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950140.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000950139.1",
"protein_id": "ENSP00000620198.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1505,
"cds_start": 673,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950139.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Arg195Trp",
"transcript": "ENST00000918632.1",
"protein_id": "ENSP00000588691.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 1489,
"cds_start": 583,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918632.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000950135.1",
"protein_id": "ENSP00000620194.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1484,
"cds_start": 673,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950135.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000918635.1",
"protein_id": "ENSP00000588694.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1481,
"cds_start": 673,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918635.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000918637.1",
"protein_id": "ENSP00000588696.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 1480,
"cds_start": 673,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918637.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000918630.1",
"protein_id": "ENSP00000588689.1",
"transcript_support_level": null,
"aa_start": 225,
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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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{
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],
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{
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"intron_variant"
],
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"biotype": "retained_intron",
"feature": "ENST00000555232.5"
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],
"gene_symbol": "ARHGEF40",
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"dbsnp": null,
"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": 0.12925782799720764,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.2444,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.827,
"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_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001278529.2",
"gene_symbol": "ARHGEF40",
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"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-1497C>T",
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}
],
"clinvar_disease": "ARHGEF40 related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "ARHGEF40 related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}