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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: 11-64804513-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64804513&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64804513,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000450708.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Thr552Ser",
"transcript": "NM_001370259.2",
"protein_id": "NP_001357188.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 610,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "ENST00000450708.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Thr552Ser",
"transcript": "ENST00000450708.7",
"protein_id": "ENSP00000394933.3",
"transcript_support_level": 5,
"aa_start": 552,
"aa_end": null,
"aa_length": 610,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": "NM_001370259.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Thr552Ser",
"transcript": "ENST00000312049.11",
"protein_id": "ENSP00000308975.6",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 610,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Thr552Ser",
"transcript": "ENST00000424912.2",
"protein_id": "ENSP00000388016.2",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 610,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Thr552Ser",
"transcript": "ENST00000429702.6",
"protein_id": "ENSP00000402752.2",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 610,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1549A>T",
"hgvs_p": "p.Thr517Ser",
"transcript": "ENST00000377321.5",
"protein_id": "ENSP00000366538.1",
"transcript_support_level": 1,
"aa_start": 517,
"aa_end": null,
"aa_length": 575,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1795A>T",
"hgvs_p": "p.Thr599Ser",
"transcript": "NM_001407150.1",
"protein_id": "NP_001394079.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 657,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Thr594Ser",
"transcript": "NM_001370251.2",
"protein_id": "NP_001357180.2",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 652,
"cds_start": 1780,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Thr594Ser",
"transcript": "NM_001407142.1",
"protein_id": "NP_001394071.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 652,
"cds_start": 1780,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Thr594Ser",
"transcript": "NM_001407143.1",
"protein_id": "NP_001394072.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 652,
"cds_start": 1780,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Thr594Ser",
"transcript": "NM_001407144.1",
"protein_id": "NP_001394073.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 652,
"cds_start": 1780,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1780A>T",
"hgvs_p": "p.Thr594Ser",
"transcript": "ENST00000672304.1",
"protein_id": "ENSP00000500585.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 652,
"cds_start": 1780,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1675A>T",
"hgvs_p": "p.Thr559Ser",
"transcript": "NM_001407151.1",
"protein_id": "NP_001394080.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 617,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "NM_000244.4",
"protein_id": "NP_000235.3",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 615,
"cds_start": 1669,
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"cdna_start": 1749,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "NM_001407145.1",
"protein_id": "NP_001394074.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 615,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "NM_130800.3",
"protein_id": "NP_570712.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 615,
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"cdna_start": 1730,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "NM_130801.3",
"protein_id": "NP_570713.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 615,
"cds_start": 1669,
"cds_end": null,
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"cdna_start": 1718,
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"cdna_length": 2715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "NM_130802.3",
"protein_id": "NP_570714.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 615,
"cds_start": 1669,
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"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "NM_130803.3",
"protein_id": "NP_570715.2",
"transcript_support_level": null,
"aa_start": 557,
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"aa_length": 615,
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"cdna_start": 2173,
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"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "NM_130804.3",
"protein_id": "NP_570716.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 615,
"cds_start": 1669,
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"cdna_start": 2045,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "ENST00000377313.7",
"protein_id": "ENSP00000366530.1",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 615,
"cds_start": 1669,
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"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1669A>T",
"hgvs_p": "p.Thr557Ser",
"transcript": "ENST00000710881.1",
"protein_id": "ENSP00000518530.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 615,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEN1",
"gene_hgnc_id": 7010,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Thr552Ser",
"transcript": "NM_001370260.2",
"protein_id": "NP_001357189.2",
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},
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},
{
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},
{
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"transcript": "ENST00000672079.2",
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}
],
"gene_symbol": "MEN1",
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"dbsnp": "rs121913035",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32805031538009644,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.652,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,PP5,BP4",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 1,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000450708.7",
"gene_symbol": "MEN1",
"hgnc_id": 7010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Thr552Ser"
}
],
"clinvar_disease": "Adrenocortical adenoma",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Adrenocortical adenoma",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}