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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: 3-78600143-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=78600143&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 78600143,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002941.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4911A>T",
"hgvs_p": "p.Glu1637Asp",
"transcript": "NM_002941.4",
"protein_id": "NP_002932.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4911,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5208,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "ENST00000464233.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4911A>T",
"hgvs_p": "p.Glu1637Asp",
"transcript": "ENST00000464233.6",
"protein_id": "ENSP00000420321.1",
"transcript_support_level": 5,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1651,
"cds_start": 4911,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 5208,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": "NM_002941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4776A>T",
"hgvs_p": "p.Glu1592Asp",
"transcript": "ENST00000495273.5",
"protein_id": "ENSP00000420637.1",
"transcript_support_level": 1,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4776,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5330,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4611A>T",
"hgvs_p": "p.Glu1537Asp",
"transcript": "ENST00000467549.5",
"protein_id": "ENSP00000417992.1",
"transcript_support_level": 1,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4611,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 4694,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4776A>T",
"hgvs_p": "p.Glu1592Asp",
"transcript": "NM_133631.4",
"protein_id": "NP_598334.2",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4776,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 5774,
"cdna_end": null,
"cdna_length": 7493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4611A>T",
"hgvs_p": "p.Glu1537Asp",
"transcript": "NM_001145845.2",
"protein_id": "NP_001139317.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1551,
"cds_start": 4611,
"cds_end": null,
"cds_length": 4656,
"cdna_start": 5609,
"cdna_end": null,
"cdna_length": 7328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4551A>T",
"hgvs_p": "p.Glu1517Asp",
"transcript": "ENST00000436010.6",
"protein_id": "ENSP00000406043.3",
"transcript_support_level": 5,
"aa_start": 1517,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4551,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 5789,
"cdna_end": null,
"cdna_length": 7501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4533A>T",
"hgvs_p": "p.Glu1511Asp",
"transcript": "ENST00000618846.4",
"protein_id": "ENSP00000482448.1",
"transcript_support_level": 5,
"aa_start": 1511,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4533,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 5771,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4920A>T",
"hgvs_p": "p.Glu1640Asp",
"transcript": "XM_011533976.1",
"protein_id": "XP_011532278.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4920,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5217,
"cdna_end": null,
"cdna_length": 6936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4920A>T",
"hgvs_p": "p.Glu1640Asp",
"transcript": "XM_011533977.3",
"protein_id": "XP_011532279.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4920,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5508,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4893A>T",
"hgvs_p": "p.Glu1631Asp",
"transcript": "XM_011533978.1",
"protein_id": "XP_011532280.1",
"transcript_support_level": null,
"aa_start": 1631,
"aa_end": null,
"aa_length": 1645,
"cds_start": 4893,
"cds_end": null,
"cds_length": 4938,
"cdna_start": 5190,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4884A>T",
"hgvs_p": "p.Glu1628Asp",
"transcript": "XM_047448661.1",
"protein_id": "XP_047304617.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1642,
"cds_start": 4884,
"cds_end": null,
"cds_length": 4929,
"cdna_start": 5181,
"cdna_end": null,
"cdna_length": 6900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4836A>T",
"hgvs_p": "p.Glu1612Asp",
"transcript": "XM_017006982.2",
"protein_id": "XP_016862471.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4836,
"cds_end": null,
"cds_length": 4881,
"cdna_start": 5133,
"cdna_end": null,
"cdna_length": 6852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4803A>T",
"hgvs_p": "p.Glu1601Asp",
"transcript": "XM_006713277.4",
"protein_id": "XP_006713340.1",
"transcript_support_level": null,
"aa_start": 1601,
"aa_end": null,
"aa_length": 1615,
"cds_start": 4803,
"cds_end": null,
"cds_length": 4848,
"cdna_start": 5801,
"cdna_end": null,
"cdna_length": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4797A>T",
"hgvs_p": "p.Glu1599Asp",
"transcript": "XM_047448662.1",
"protein_id": "XP_047304618.1",
"transcript_support_level": null,
"aa_start": 1599,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4797,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 4815,
"cdna_end": null,
"cdna_length": 6534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4794A>T",
"hgvs_p": "p.Glu1598Asp",
"transcript": "XM_017006983.3",
"protein_id": "XP_016862472.1",
"transcript_support_level": null,
"aa_start": 1598,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4794,
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"cds_length": 4839,
"cdna_start": 5792,
"cdna_end": null,
"cdna_length": 7511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4767A>T",
"hgvs_p": "p.Glu1589Asp",
"transcript": "XM_047448663.1",
"protein_id": "XP_047304619.1",
"transcript_support_level": null,
"aa_start": 1589,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4767,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 5765,
"cdna_end": null,
"cdna_length": 7484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4755A>T",
"hgvs_p": "p.Glu1585Asp",
"transcript": "XM_011533979.1",
"protein_id": "XP_011532281.1",
"transcript_support_level": null,
"aa_start": 1585,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4755,
"cds_end": null,
"cds_length": 4800,
"cdna_start": 5052,
"cdna_end": null,
"cdna_length": 6771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4746A>T",
"hgvs_p": "p.Glu1582Asp",
"transcript": "XM_017006984.1",
"protein_id": "XP_016862473.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 1596,
"cds_start": 4746,
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"cds_length": 4791,
"cdna_start": 5043,
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"cdna_length": 6762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4728A>T",
"hgvs_p": "p.Glu1576Asp",
"transcript": "XM_011533980.1",
"protein_id": "XP_011532282.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4728,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 5025,
"cdna_end": null,
"cdna_length": 6744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4719A>T",
"hgvs_p": "p.Glu1573Asp",
"transcript": "XM_047448664.1",
"protein_id": "XP_047304620.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4719,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 5016,
"cdna_end": null,
"cdna_length": 6735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4602A>T",
"hgvs_p": "p.Glu1534Asp",
"transcript": "XM_047448665.1",
"protein_id": "XP_047304621.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1548,
"cds_start": 4602,
"cds_end": null,
"cds_length": 4647,
"cdna_start": 5600,
"cdna_end": null,
"cdna_length": 7319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "c.4563A>T",
"hgvs_p": "p.Glu1521Asp",
"transcript": "XM_017006985.2",
"protein_id": "XP_016862474.1",
"transcript_support_level": null,
"aa_start": 1521,
"aa_end": null,
"aa_length": 1535,
"cds_start": 4563,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 4798,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"hgvs_c": "n.520A>T",
"hgvs_p": null,
"transcript": "ENST00000466906.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ROBO1",
"gene_hgnc_id": 10249,
"dbsnp": "rs201046832",
"frequency_reference_population": 0.00020952638,
"hom_count_reference_population": 0,
"allele_count_reference_population": 338,
"gnomad_exomes_af": 0.000223828,
"gnomad_genomes_af": 0.0000722657,
"gnomad_exomes_ac": 327,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11410385370254517,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.4061,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.192,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_002941.4",
"gene_symbol": "ROBO1",
"hgnc_id": 10249,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4911A>T",
"hgvs_p": "p.Glu1637Asp"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}