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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: 9-730237-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=730237&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 730237,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000382297.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "NM_015158.5",
"protein_id": "NP_055973.2",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 5070,
"mane_select": "ENST00000382297.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "ENST00000382297.7",
"protein_id": "ENSP00000371734.2",
"transcript_support_level": 1,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 5070,
"mane_select": "NM_015158.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "ENST00000382303.5",
"protein_id": "ENSP00000371740.1",
"transcript_support_level": 1,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 5581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2411C>T",
"hgvs_p": "p.Ala804Val",
"transcript": "ENST00000382293.7",
"protein_id": "ENSP00000371730.3",
"transcript_support_level": 1,
"aa_start": 804,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3207,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ala75Val",
"transcript": "ENST00000382289.7",
"protein_id": "ENSP00000371726.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 465,
"cds_start": 224,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.-47C>T",
"hgvs_p": null,
"transcript": "ENST00000382286.3",
"protein_id": "ENSP00000371723.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "ENST00000619269.5",
"protein_id": "ENSP00000477725.2",
"transcript_support_level": 5,
"aa_start": 962,
"aa_end": null,
"aa_length": 1375,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "NM_001256876.3",
"protein_id": "NP_001243805.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3533,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "NM_001256877.3",
"protein_id": "NP_001243806.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3643,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "NM_001354334.2",
"protein_id": "NP_001341263.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3188,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "NM_001438412.1",
"protein_id": "NP_001425341.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3142,
"cdna_end": null,
"cdna_length": 5184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "ENST00000674102.1",
"protein_id": "ENSP00000501167.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3306,
"cdna_end": null,
"cdna_length": 5348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "ENST00000685947.1",
"protein_id": "ENSP00000508833.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3238,
"cdna_end": null,
"cdna_length": 5276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "ENST00000689779.1",
"protein_id": "ENSP00000508451.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1352,
"cds_start": 2885,
"cds_end": null,
"cds_length": 4059,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 5219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "NM_001354331.2",
"protein_id": "NP_001341260.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1272,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 4830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "ENST00000689926.1",
"protein_id": "ENSP00000510088.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1272,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3306,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val",
"transcript": "ENST00000691319.1",
"protein_id": "ENSP00000509034.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1272,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 3043,
"cdna_end": null,
"cdna_length": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2411C>T",
"hgvs_p": "p.Ala804Val",
"transcript": "ENST00000690348.1",
"protein_id": "ENSP00000509448.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 2942,
"cdna_end": null,
"cdna_length": 5042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2411C>T",
"hgvs_p": "p.Ala804Val",
"transcript": "ENST00000692345.1",
"protein_id": "ENSP00000508925.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2411C>T",
"hgvs_p": "p.Ala804Val",
"transcript": "NM_001354333.2",
"protein_id": "NP_001341262.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2411C>T",
"hgvs_p": "p.Ala804Val",
"transcript": "NM_001354335.2",
"protein_id": "NP_001341264.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3006,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"hgvs_c": "c.2411C>T",
"hgvs_p": "p.Ala804Val",
"transcript": "NM_001354337.2",
"protein_id": "NP_001341266.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2411,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2955,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
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},
{
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"canonical": false,
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],
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},
{
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],
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"gene_symbol": "KANK1",
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"transcript": "XM_047423075.1",
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},
{
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],
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"gene_symbol": "KANK1",
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"hgvs_c": "c.2368+43C>T",
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"transcript": "XM_047423077.1",
"protein_id": "XP_047279033.1",
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"feature": null
}
],
"gene_symbol": "KANK1",
"gene_hgnc_id": 19309,
"dbsnp": "rs1554713996",
"frequency_reference_population": 0.000001368107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13049769401550293,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.1138,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.413,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000382297.7",
"gene_symbol": "KANK1",
"hgnc_id": 19309,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.2885C>T",
"hgvs_p": "p.Ala962Val"
}
],
"clinvar_disease": " 2, spastic quadriplegic,Cerebral palsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cerebral palsy, spastic quadriplegic, 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}