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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: 19-29702725-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=29702725&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 29702725,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031448.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "NM_031448.6",
"protein_id": "NP_113636.2",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323670.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031448.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000323670.14",
"protein_id": "ENSP00000313332.9",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031448.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323670.14"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "ENST00000392276.1",
"protein_id": "ENSP00000376102.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 77,
"cds_start": 221,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.*34A>G",
"hgvs_p": null,
"transcript": "ENST00000592153.5",
"protein_id": "ENSP00000467117.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592153.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "NM_001031726.4",
"protein_id": "NP_001026896.3",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031726.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "NM_001256047.2",
"protein_id": "NP_001242976.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256047.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000623113.3",
"protein_id": "ENSP00000485413.2",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623113.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890432.1",
"protein_id": "ENSP00000560491.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890432.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890433.1",
"protein_id": "ENSP00000560492.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890433.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890434.1",
"protein_id": "ENSP00000560493.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890434.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890435.1",
"protein_id": "ENSP00000560494.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890435.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890436.1",
"protein_id": "ENSP00000560495.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890436.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890437.1",
"protein_id": "ENSP00000560496.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890437.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890438.1",
"protein_id": "ENSP00000560497.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890438.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890439.1",
"protein_id": "ENSP00000560498.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890439.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890440.1",
"protein_id": "ENSP00000560499.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890440.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890441.1",
"protein_id": "ENSP00000560500.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890441.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890442.1",
"protein_id": "ENSP00000560501.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890442.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890443.1",
"protein_id": "ENSP00000560502.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890443.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890444.1",
"protein_id": "ENSP00000560503.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890444.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890445.1",
"protein_id": "ENSP00000560504.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890445.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg",
"transcript": "ENST00000890446.1",
"protein_id": "ENSP00000560505.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 141,
"cds_start": 413,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890446.1"
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{
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{
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{
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{
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{
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"downstream_gene_variant"
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"gene_symbol": "C19orf12",
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"hgvs_c": "n.*327A>G",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000342680.5"
}
],
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"dbsnp": "rs73023451",
"frequency_reference_population": 0.0033534924,
"hom_count_reference_population": 13,
"allele_count_reference_population": 5412,
"gnomad_exomes_af": 0.00343815,
"gnomad_genomes_af": 0.00254107,
"gnomad_exomes_ac": 5025,
"gnomad_genomes_ac": 387,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00606226921081543,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6899999976158142,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.781,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.69,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -14,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,PP3,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 16,
"pathogenic_score": 2,
"criteria": [
"PP2",
"PP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_031448.6",
"gene_symbol": "C19orf12",
"hgnc_id": 25443,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.413A>G",
"hgvs_p": "p.Gln138Arg"
}
],
"clinvar_disease": "Hereditary spastic paraplegia,Hereditary spastic paraplegia 43,Neurodegeneration with brain iron accumulation 4,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6",
"phenotype_combined": "not specified|Hereditary spastic paraplegia 43|Neurodegeneration with brain iron accumulation 4|not provided|Hereditary spastic paraplegia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}