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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: 6-135431282-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135431282&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 135431282,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001134831.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_001134831.2",
"protein_id": "NP_001128303.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": "ENST00000265602.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000265602.11",
"protein_id": "ENSP00000265602.6",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2658,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": "NM_001134831.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000367800.8",
"protein_id": "ENSP00000356774.4",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000457866.6",
"protein_id": "ENSP00000388650.2",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000327035.10",
"protein_id": "ENSP00000322478.6",
"transcript_support_level": 1,
"aa_start": 767,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.1351G>T",
"hgvs_p": "p.Val451Leu",
"transcript": "ENST00000367799.7",
"protein_id": "ENSP00000356773.3",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 845,
"cds_start": 1351,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_001134830.2",
"protein_id": "NP_001128302.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 5916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_001350503.2",
"protein_id": "NP_001337432.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2767,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "NM_017651.5",
"protein_id": "NP_060121.3",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681022.1",
"protein_id": "ENSP00000505121.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2299,
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"cds_length": 3591,
"cdna_start": 5249,
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"cdna_length": 8779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681340.1",
"protein_id": "ENSP00000505666.1",
"transcript_support_level": null,
"aa_start": 767,
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"cds_start": 2299,
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"cdna_start": 2785,
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},
{
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"consequences": [
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],
"exon_rank": 16,
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"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "AHI1",
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"transcript": "ENST00000681365.1",
"protein_id": "ENSP00000506604.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "AHI1",
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},
{
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],
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"gene_symbol": "AHI1",
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},
{
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"consequences": [
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],
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"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681670.1",
"protein_id": "ENSP00000504895.1",
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},
{
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],
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"gene_symbol": "AHI1",
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"hgvs_c": "c.2299G>T",
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"transcript": "NM_001350504.2",
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},
{
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],
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"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000679925.1",
"protein_id": "ENSP00000505502.1",
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},
{
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"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "ENST00000681756.1",
"protein_id": "ENSP00000506505.1",
"transcript_support_level": null,
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},
{
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"gene_symbol": "AHI1",
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"hgvs_c": "c.2146G>T",
"hgvs_p": "p.Val716Leu",
"transcript": "ENST00000681301.1",
"protein_id": "ENSP00000505093.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "AHI1",
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"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
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},
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],
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"intron_rank": null,
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"gene_symbol": "AHI1",
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"hgvs_c": "c.2299G>T",
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"transcript": "NM_001134832.2",
"protein_id": "NP_001128304.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu",
"transcript": "XM_011535910.4",
"protein_id": "XP_011534212.1",
"transcript_support_level": null,
"aa_start": 767,
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"cdna_length": 6234,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"canonical": false,
"protein_coding": false,
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},
{
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"protein_coding": false,
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"3_prime_UTR_variant"
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"exon_rank": 14,
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"exon_count": 20,
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"transcript": "ENST00000681477.1",
"protein_id": "ENSP00000504989.1",
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"cdna_length": 3540,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
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"exon_rank": 11,
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"exon_count": 26,
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"gene_symbol": "AHI1",
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"transcript": "ENST00000681860.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 13,
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"gene_symbol": "AHI1",
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"hgvs_c": "n.-30G>T",
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"transcript": "ENST00000527681.2",
"protein_id": "ENSP00000433864.2",
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{
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"consequences": [
"upstream_gene_variant"
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"gene_symbol": "AHI1",
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"hgvs_c": "n.-18G>T",
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"transcript": "ENST00000679476.1",
"protein_id": "ENSP00000506461.1",
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"cdna_length": 2663,
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}
],
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"dbsnp": "rs755688765",
"frequency_reference_population": 0.000031094914,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000336541,
"gnomad_genomes_af": 0.00000657929,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03901565074920654,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.1243,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.307,
"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": "PM1,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001134831.2",
"gene_symbol": "AHI1",
"hgnc_id": 21575,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2299G>T",
"hgvs_p": "p.Val767Leu"
}
],
"clinvar_disease": "Joubert syndrome,Joubert syndrome 3,Retinal dystrophy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "not specified|Joubert syndrome|Retinal dystrophy|Joubert syndrome 3|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}