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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: 9-21970999-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=21970999&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 21970999,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000077.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Glu120Asp",
"transcript": "NM_000077.5",
"protein_id": "NP_000068.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 156,
"cds_start": 360,
"cds_end": null,
"cds_length": 471,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 978,
"mane_select": "ENST00000304494.10",
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Glu120Asp",
"transcript": "ENST00000304494.10",
"protein_id": "ENSP00000307101.5",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 156,
"cds_start": 360,
"cds_end": null,
"cds_length": 471,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 978,
"mane_select": "NM_000077.5",
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Glu120Asp",
"transcript": "ENST00000498124.1",
"protein_id": "ENSP00000418915.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 167,
"cds_start": 360,
"cds_end": null,
"cds_length": 504,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 880,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "n.*283G>T",
"hgvs_p": null,
"transcript": "ENST00000380151.3",
"protein_id": "ENSP00000369496.3",
"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": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.*4G>T",
"hgvs_p": null,
"transcript": "NM_058195.4",
"protein_id": "NP_478102.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": "ENST00000579755.2",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.*4G>T",
"hgvs_p": null,
"transcript": "ENST00000579755.2",
"protein_id": "ENSP00000462950.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1052,
"mane_select": null,
"mane_plus": "NM_058195.4",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "n.*283G>T",
"hgvs_p": null,
"transcript": "ENST00000380151.3",
"protein_id": "ENSP00000369496.3",
"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": 794,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Glu120Asp",
"transcript": "NM_001195132.2",
"protein_id": "NP_001182061.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 167,
"cds_start": 360,
"cds_end": null,
"cds_length": 504,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1175,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Glu120Asp",
"transcript": "ENST00000579122.1",
"protein_id": "ENSP00000464202.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 138,
"cds_start": 360,
"cds_end": null,
"cds_length": 417,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 666,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "ENST00000479692.2",
"protein_id": "ENSP00000466887.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 121,
"cds_start": 207,
"cds_end": null,
"cds_length": 366,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 544,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "NM_001363763.2",
"protein_id": "NP_001350692.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 105,
"cds_start": 207,
"cds_end": null,
"cds_length": 318,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1302,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "ENST00000494262.5",
"protein_id": "ENSP00000464952.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 105,
"cds_start": 207,
"cds_end": null,
"cds_length": 318,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 989,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "ENST00000498628.6",
"protein_id": "ENSP00000467857.1",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 105,
"cds_start": 207,
"cds_end": null,
"cds_length": 318,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 926,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "ENST00000578845.2",
"protein_id": "ENSP00000467390.1",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 105,
"cds_start": 207,
"cds_end": null,
"cds_length": 318,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 678,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "ENST00000497750.1",
"protein_id": "ENSP00000468510.1",
"transcript_support_level": 4,
"aa_start": 69,
"aa_end": null,
"aa_length": 104,
"cds_start": 207,
"cds_end": null,
"cds_length": 315,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 565,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Glu120Asp",
"transcript": "XM_011517675.3",
"protein_id": "XP_011515977.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 184,
"cds_start": 360,
"cds_end": null,
"cds_length": 555,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1186,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Glu120Asp",
"transcript": "XM_011517676.3",
"protein_id": "XP_011515978.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 172,
"cds_start": 360,
"cds_end": null,
"cds_length": 519,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 700,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "XM_047422596.1",
"protein_id": "XP_047278552.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 133,
"cds_start": 207,
"cds_end": null,
"cds_length": 402,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1336,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "XM_047422598.1",
"protein_id": "XP_047278554.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 133,
"cds_start": 207,
"cds_end": null,
"cds_length": 402,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 1038,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.207G>T",
"hgvs_p": "p.Glu69Asp",
"transcript": "XM_047422597.1",
"protein_id": "XP_047278553.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 105,
"cds_start": 207,
"cds_end": null,
"cds_length": 318,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 886,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "n.334G>T",
"hgvs_p": null,
"transcript": "ENST00000380150.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.*4G>T",
"hgvs_p": null,
"transcript": "ENST00000530628.2",
"protein_id": "ENSP00000432664.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"hgvs_c": "c.*283G>T",
"hgvs_p": null,
"transcript": "NM_058197.5",
"protein_id": "NP_478104.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264545",
"gene_hgnc_id": null,
"hgvs_c": "n.461-58434C>A",
"hgvs_p": null,
"transcript": "ENST00000404796.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDKN2A",
"gene_hgnc_id": 1787,
"dbsnp": "rs757308315",
"frequency_reference_population": 0.0000034312804,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000343128,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2019263207912445,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.569,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.185,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate,BS2_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 3,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate",
"BS2_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000077.5",
"gene_symbol": "CDKN2A",
"hgnc_id": 1787,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Glu120Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000404796.3",
"gene_symbol": "ENSG00000264545",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.461-58434C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Familial melanoma,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Familial melanoma|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}