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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: 11-108365429-AAGTGAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108365429&ref=AAGTGAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108365429,
"ref": "AAGTGAA",
"alt": "T",
"effect": "missense_variant,disruptive_inframe_deletion",
"transcript": "ENST00000675843.1",
"consequences": [
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "NM_000051.4",
"protein_id": "NP_000042.3",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 9242,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "ENST00000675843.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "ENST00000675843.1",
"protein_id": "ENSP00000501606.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 9242,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "NM_000051.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "ENST00000452508.7",
"protein_id": "ENSP00000388058.2",
"transcript_support_level": 1,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 9574,
"cdna_end": null,
"cdna_length": 13247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.*4156_*4162delAAGTGAAinsT",
"hgvs_p": null,
"transcript": "ENST00000527805.6",
"protein_id": "ENSP00000435747.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.*4156_*4162delAAGTGAAinsT",
"hgvs_p": null,
"transcript": "ENST00000527805.6",
"protein_id": "ENSP00000435747.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.*2-9326_*2-9320delTTCACTTinsA",
"hgvs_p": null,
"transcript": "ENST00000615746.4",
"protein_id": "ENSP00000483537.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "NM_001351834.2",
"protein_id": "NP_001338763.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 9330,
"cdna_end": null,
"cdna_length": 13003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "ENST00000278616.10",
"protein_id": "ENSP00000278616.4",
"transcript_support_level": 5,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 9398,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "ENST00000601453.3",
"protein_id": "ENSP00000469471.2",
"transcript_support_level": 3,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 10543,
"cdna_end": null,
"cdna_length": 14216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "ENST00000713844.1",
"protein_id": "ENSP00000519149.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 9256,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "XM_005271562.6",
"protein_id": "XP_005271619.2",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 9484,
"cdna_end": null,
"cdna_length": 13157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "XM_006718843.5",
"protein_id": "XP_006718906.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 10192,
"cdna_end": null,
"cdna_length": 13865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "XM_011542840.4",
"protein_id": "XP_011541142.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
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"cdna_start": 10280,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "XM_017017790.3",
"protein_id": "XP_016873279.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 10060,
"cdna_end": null,
"cdna_length": 13733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "XM_047426975.1",
"protein_id": "XP_047282931.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
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"cdna_start": 10033,
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"cdna_length": 13706,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu",
"transcript": "XM_047426976.1",
"protein_id": "XP_047282932.1",
"transcript_support_level": null,
"aa_start": 3031,
"aa_end": null,
"aa_length": 3056,
"cds_start": 9092,
"cds_end": null,
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"cdna_start": 9572,
"cdna_end": null,
"cdna_length": 13245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.8927_8933delAAGTGAAinsT",
"hgvs_p": "p.Gln2976_Asn2978delinsLeu",
"transcript": "XM_011542842.4",
"protein_id": "XP_011541144.1",
"transcript_support_level": null,
"aa_start": 2976,
"aa_end": null,
"aa_length": 3001,
"cds_start": 8927,
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"cdna_start": 9077,
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"cdna_length": 12750,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.8927_8933delAAGTGAAinsT",
"hgvs_p": "p.Gln2976_Asn2978delinsLeu",
"transcript": "XM_047426977.1",
"protein_id": "XP_047282933.1",
"transcript_support_level": null,
"aa_start": 2976,
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"cdna_start": 10115,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 63,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.8927_8933delAAGTGAAinsT",
"hgvs_p": "p.Gln2976_Asn2978delinsLeu",
"transcript": "XM_047426978.1",
"protein_id": "XP_047282934.1",
"transcript_support_level": null,
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"cds_start": 8927,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.8927_8933delAAGTGAAinsT",
"hgvs_p": "p.Gln2976_Asn2978delinsLeu",
"transcript": "XM_047426979.1",
"protein_id": "XP_047282935.1",
"transcript_support_level": null,
"aa_start": 2976,
"aa_end": null,
"aa_length": 3001,
"cds_start": 8927,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 10027,
"cdna_end": null,
"cdna_length": 13700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QVN",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.8048_8054delAAGTGAAinsT",
"hgvs_p": "p.Gln2683_Asn2685delinsLeu",
"transcript": "XM_011542844.4",
"protein_id": "XP_011541146.1",
"transcript_support_level": null,
"aa_start": 2683,
"aa_end": null,
"aa_length": 2708,
"cds_start": 8048,
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}
],
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"dbsnp": "rs1555151979",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
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"gnomad_exomes_homalt": null,
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.52,
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"spliceai_max_prediction": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM4,PP3,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM4",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000675843.1",
"gene_symbol": "ATM",
"hgnc_id": 795,
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.9092_9098delAAGTGAAinsT",
"hgvs_p": "p.Gln3031_Asn3033delinsLeu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
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"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330368.2",
"gene_symbol": "C11orf65",
"hgnc_id": 28519,
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],
"inheritance_mode": "AR",
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}
],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"phenotype_combined": "Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast;Ataxia-telangiectasia syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}