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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: 1-6820181-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6820181&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6820181,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_015215.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "NM_015215.4",
"protein_id": "NP_056030.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1673,
"cds_start": 46,
"cds_end": null,
"cds_length": 5022,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "ENST00000303635.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "ENST00000303635.12",
"protein_id": "ENSP00000306522.6",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 1673,
"cds_start": 46,
"cds_end": null,
"cds_length": 5022,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": "NM_015215.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "ENST00000476864.2",
"protein_id": "ENSP00000452319.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 1560,
"cds_start": 46,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 59,
"cdna_end": null,
"cdna_length": 6282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "ENST00000473578.5",
"protein_id": "ENSP00000451388.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 80,
"cds_start": 46,
"cds_end": null,
"cds_length": 243,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "NM_001349609.2",
"protein_id": "NP_001336538.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1567,
"cds_start": 46,
"cds_end": null,
"cds_length": 4704,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 7965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "NM_001349610.2",
"protein_id": "NP_001336539.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1565,
"cds_start": 46,
"cds_end": null,
"cds_length": 4698,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 7990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "NM_001410737.1",
"protein_id": "NP_001397666.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1560,
"cds_start": 46,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "NM_001410738.1",
"protein_id": "NP_001397667.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1536,
"cds_start": 46,
"cds_end": null,
"cds_length": 4611,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 7872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "ENST00000700417.1",
"protein_id": "ENSP00000514981.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1536,
"cds_start": 46,
"cds_end": null,
"cds_length": 4611,
"cdna_start": 46,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "NM_001242701.2",
"protein_id": "NP_001229630.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 101,
"cds_start": 46,
"cds_end": null,
"cds_length": 306,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "ENST00000557126.5",
"protein_id": "ENSP00000451510.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 101,
"cds_start": 46,
"cds_end": null,
"cds_length": 306,
"cdna_start": 86,
"cdna_end": null,
"cdna_length": 486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "ENST00000700416.1",
"protein_id": "ENSP00000514980.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 83,
"cds_start": 46,
"cds_end": null,
"cds_length": 252,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "NM_001195563.2",
"protein_id": "NP_001182492.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 80,
"cds_start": 46,
"cds_end": null,
"cds_length": 243,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "XM_011541083.3",
"protein_id": "XP_011539385.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1680,
"cds_start": 46,
"cds_end": null,
"cds_length": 5043,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 8304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "XM_011541084.3",
"protein_id": "XP_011539386.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1680,
"cds_start": 46,
"cds_end": null,
"cds_length": 5043,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 8335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Ser12Gly",
"transcript": "XM_047415988.1",
"protein_id": "XP_047271944.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1676,
"cds_start": 34,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 9050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "XM_011541086.4",
"protein_id": "XP_011539388.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1673,
"cds_start": 46,
"cds_end": null,
"cds_length": 5022,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 8283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "XM_017000774.3",
"protein_id": "XP_016856263.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1661,
"cds_start": 46,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 7439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "XM_011541087.3",
"protein_id": "XP_011539389.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1656,
"cds_start": 46,
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"cds_length": 4971,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "XM_047415993.1",
"protein_id": "XP_047271949.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1654,
"cds_start": 46,
"cds_end": null,
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"cdna_start": 123,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly",
"transcript": "XM_047415997.1",
"protein_id": "XP_047271953.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1649,
"cds_start": 46,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 123,
"cdna_end": null,
"cdna_length": 8211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA1",
"gene_hgnc_id": 18806,
"hgvs_c": "c.-273A>G",
"hgvs_p": null,
"transcript": "XM_047416009.1",
"protein_id": "XP_047271965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1574,
"cds_start": -4,
"cds_end": null,
"cds_length": 4725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
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{
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},
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},
{
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],
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"gene_symbol": "CAMTA1",
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"transcript": "ENST00000700418.1",
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}
],
"gene_symbol": "CAMTA1",
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"dbsnp": null,
"frequency_reference_population": 7.3824384e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.38244e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3161852955818176,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5239999890327454,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.863,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.647221625046624,
"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015215.4",
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.46A>G",
"hgvs_p": "p.Ser16Gly"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}