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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: 6-89630727-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=89630727&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 89630727,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001242809.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "NM_001242809.2",
"protein_id": "NP_001229738.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339746.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242809.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "ENST00000339746.9",
"protein_id": "ENSP00000345767.4",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242809.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339746.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Pro631Leu",
"transcript": "ENST00000447838.6",
"protein_id": "ENSP00000396771.2",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 722,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447838.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1802C>T",
"hgvs_p": "p.Pro601Leu",
"transcript": "ENST00000369408.9",
"protein_id": "ENSP00000358416.5",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 692,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369408.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "n.1724C>T",
"hgvs_p": null,
"transcript": "ENST00000518253.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000518253.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LYRM2",
"gene_hgnc_id": 25229,
"hgvs_c": "n.186+7015G>A",
"hgvs_p": null,
"transcript": "ENST00000412237.6",
"protein_id": "ENSP00000430316.1",
"transcript_support_level": 1,
"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": "ENST00000412237.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LYRM2",
"gene_hgnc_id": 25229,
"hgvs_c": "n.221-6125G>A",
"hgvs_p": null,
"transcript": "ENST00000520897.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000520897.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LYRM2",
"gene_hgnc_id": 25229,
"hgvs_c": "n.368-6125G>A",
"hgvs_p": null,
"transcript": "ENST00000523793.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000523793.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.2024C>T",
"hgvs_p": "p.Pro675Leu",
"transcript": "ENST00000960502.1",
"protein_id": "ENSP00000630561.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 766,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960502.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1985C>T",
"hgvs_p": "p.Pro662Leu",
"transcript": "ENST00000960500.1",
"protein_id": "ENSP00000630559.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 753,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960500.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1982C>T",
"hgvs_p": "p.Pro661Leu",
"transcript": "ENST00000710308.1",
"protein_id": "ENSP00000518190.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 752,
"cds_start": 1982,
"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": "ENST00000710308.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "NM_001242811.1",
"protein_id": "NP_001229740.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242811.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "ENST00000522441.5",
"protein_id": "ENSP00000430985.1",
"transcript_support_level": 2,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522441.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "ENST00000862698.1",
"protein_id": "ENSP00000532757.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862698.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "ENST00000960510.1",
"protein_id": "ENSP00000630569.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960510.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Pro631Leu",
"transcript": "NM_014942.4",
"protein_id": "NP_055757.3",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 722,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014942.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1829C>T",
"hgvs_p": "p.Pro610Leu",
"transcript": "ENST00000862695.1",
"protein_id": "ENSP00000532754.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 701,
"cds_start": 1829,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862695.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1814C>T",
"hgvs_p": "p.Pro605Leu",
"transcript": "ENST00000913471.1",
"protein_id": "ENSP00000583530.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 696,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913471.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Pro603Leu",
"transcript": "ENST00000862689.1",
"protein_id": "ENSP00000532748.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 694,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862689.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Pro603Leu",
"transcript": "ENST00000862690.1",
"protein_id": "ENSP00000532749.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 694,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862690.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Pro603Leu",
"transcript": "ENST00000862699.1",
"protein_id": "ENSP00000532758.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 694,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862699.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Pro603Leu",
"transcript": "ENST00000960501.1",
"protein_id": "ENSP00000630560.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 694,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960501.1"
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"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
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"cds_length": 454,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492158.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "ANKRD6",
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"hgvs_c": "n.*218C>T",
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"transcript": "ENST00000521240.1",
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"transcript_support_level": 4,
"aa_start": null,
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"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": "ENST00000521240.1"
}
],
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"dbsnp": "rs61739327",
"frequency_reference_population": 0.12900795,
"hom_count_reference_population": 14490,
"allele_count_reference_population": 208168,
"gnomad_exomes_af": 0.132167,
"gnomad_genomes_af": 0.0986933,
"gnomad_exomes_ac": 193138,
"gnomad_genomes_ac": 15030,
"gnomad_exomes_homalt": 13529,
"gnomad_genomes_homalt": 961,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0011639893054962158,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.808,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001242809.2",
"gene_symbol": "ANKRD6",
"hgnc_id": 17280,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000520441.5",
"gene_symbol": "LYRM2",
"hgnc_id": 25229,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.203+6998G>A",
"hgvs_p": null
}
],
"clinvar_disease": "ANKRD6-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "ANKRD6-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}