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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: 1-42750266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42750266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42750266,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001243246.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "NM_022356.4",
"protein_id": "NP_071751.3",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 736,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296388.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022356.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "ENST00000296388.10",
"protein_id": "ENSP00000296388.5",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 736,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022356.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296388.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "ENST00000397054.7",
"protein_id": "ENSP00000380245.3",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 697,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397054.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Arg655His",
"transcript": "ENST00000907902.1",
"protein_id": "ENSP00000577961.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 844,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907902.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "NM_001243246.2",
"protein_id": "NP_001230175.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 804,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243246.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "ENST00000236040.8",
"protein_id": "ENSP00000236040.4",
"transcript_support_level": 2,
"aa_start": 547,
"aa_end": null,
"aa_length": 804,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236040.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "ENST00000907901.1",
"protein_id": "ENSP00000577960.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 803,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907901.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1610G>A",
"hgvs_p": "p.Arg537His",
"transcript": "ENST00000964923.1",
"protein_id": "ENSP00000634982.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 793,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964923.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "ENST00000928449.1",
"protein_id": "ENSP00000598508.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 770,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928449.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567His",
"transcript": "ENST00000907903.1",
"protein_id": "ENSP00000577962.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 756,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907903.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "ENST00000928451.1",
"protein_id": "ENSP00000598510.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 752,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928451.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542His",
"transcript": "ENST00000928450.1",
"protein_id": "ENSP00000598509.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 731,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928450.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1610G>A",
"hgvs_p": "p.Arg537His",
"transcript": "ENST00000928452.1",
"protein_id": "ENSP00000598511.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 726,
"cds_start": 1610,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928452.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517His",
"transcript": "ENST00000907904.1",
"protein_id": "ENSP00000577963.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 706,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907904.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "NM_001146289.2",
"protein_id": "NP_001139761.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 697,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146289.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496His",
"transcript": "ENST00000907905.1",
"protein_id": "ENSP00000577964.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 685,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907905.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His",
"transcript": "XM_047427616.1",
"protein_id": "XP_047283572.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 803,
"cds_start": 1640,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427616.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222His",
"transcript": "XM_047427621.1",
"protein_id": "XP_047283577.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 478,
"cds_start": 665,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427621.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221His",
"transcript": "XM_047427626.1",
"protein_id": "XP_047283582.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 477,
"cds_start": 662,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427626.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"transcript": "XM_047427629.1",
"protein_id": "XP_047283585.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 434,
"cds_start": 533,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.561G>A",
"hgvs_p": null,
"transcript": "ENST00000431412.3",
"protein_id": "ENSP00000408056.1",
"transcript_support_level": 5,
"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": "ENST00000431412.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.1832G>A",
"hgvs_p": null,
"transcript": "ENST00000460031.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000460031.5"
},
{
"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": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.363G>A",
"hgvs_p": null,
"transcript": "ENST00000481465.3",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000481465.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"hgvs_c": "n.1920G>A",
"hgvs_p": null,
"transcript": "ENST00000495874.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000495874.5"
}
],
"gene_symbol": "P3H1",
"gene_hgnc_id": 19316,
"dbsnp": "rs750685729",
"frequency_reference_population": 0.000022307735,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000232604,
"gnomad_genomes_af": 0.0000131513,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1183646023273468,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.589,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001243246.2",
"gene_symbol": "P3H1",
"hgnc_id": 19316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Arg547His"
}
],
"clinvar_disease": "Osteogenesis imperfecta type 8,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Osteogenesis imperfecta type 8|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}