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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: 17-2963919-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2963919&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2963919,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001411048.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Glu115Lys",
"transcript": "NM_015085.5",
"protein_id": "NP_055900.4",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 730,
"cds_start": 343,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254695.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015085.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Glu115Lys",
"transcript": "ENST00000254695.13",
"protein_id": "ENSP00000254695.8",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 730,
"cds_start": 343,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015085.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254695.13"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Glu100Lys",
"transcript": "ENST00000366401.8",
"protein_id": "ENSP00000389824.2",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 715,
"cds_start": 298,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366401.8"
},
{
"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": "ENSG00000262884",
"gene_hgnc_id": 58549,
"hgvs_c": "n.1511C>T",
"hgvs_p": null,
"transcript": "ENST00000574885.1",
"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": "ENST00000574885.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Glu156Lys",
"transcript": "NM_001411048.1",
"protein_id": "NP_001397977.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 771,
"cds_start": 466,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411048.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Glu156Lys",
"transcript": "ENST00000637138.1",
"protein_id": "ENSP00000490321.1",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 771,
"cds_start": 466,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637138.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Glu141Lys",
"transcript": "NM_001438816.1",
"protein_id": "NP_001425745.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 756,
"cds_start": 421,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438816.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Glu124Lys",
"transcript": "NM_001411049.1",
"protein_id": "NP_001397978.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 739,
"cds_start": 370,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411049.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Glu124Lys",
"transcript": "ENST00000697391.1",
"protein_id": "ENSP00000513294.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 739,
"cds_start": 370,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697391.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Glu109Lys",
"transcript": "NM_001438817.1",
"protein_id": "NP_001425746.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 724,
"cds_start": 325,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438817.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.298G>A",
"hgvs_p": "p.Glu100Lys",
"transcript": "NM_001100398.2",
"protein_id": "NP_001093868.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 715,
"cds_start": 298,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100398.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "NM_001330058.2",
"protein_id": "NP_001316987.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 711,
"cds_start": 286,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330058.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "ENST00000540393.6",
"protein_id": "ENSP00000439688.2",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 711,
"cds_start": 286,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540393.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.241G>A",
"hgvs_p": "p.Glu81Lys",
"transcript": "NM_001438818.1",
"protein_id": "NP_001425747.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 696,
"cds_start": 241,
"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": "NM_001438818.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Glu68Lys",
"transcript": "ENST00000697392.1",
"protein_id": "ENSP00000513295.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 683,
"cds_start": 202,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697392.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Glu53Lys",
"transcript": "NM_001437988.1",
"protein_id": "NP_001424917.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 668,
"cds_start": 157,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437988.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "ENST00000905763.1",
"protein_id": "ENSP00000575822.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 650,
"cds_start": 262,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905763.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.316G>A",
"hgvs_p": "p.Glu106Lys",
"transcript": "XM_017024371.2",
"protein_id": "XP_016879860.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 721,
"cds_start": 316,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024371.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_011523741.3",
"protein_id": "XP_011522043.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 711,
"cds_start": 286,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523741.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Glu96Lys",
"transcript": "XM_047435668.1",
"protein_id": "XP_047291624.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 711,
"cds_start": 286,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435668.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Glu68Lys",
"transcript": "XM_011523743.2",
"protein_id": "XP_011522045.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 683,
"cds_start": 202,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523743.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Glu156Lys",
"transcript": "XM_024450659.2",
"protein_id": "XP_024306427.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 444,
"cds_start": 466,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450659.2"
},
{
"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": "RAP1GAP2-AS1",
"gene_hgnc_id": 58549,
"hgvs_c": "n.1511C>T",
"hgvs_p": null,
"transcript": "NR_110818.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_110818.1"
}
],
"gene_symbol": "RAP1GAP2",
"gene_hgnc_id": 29176,
"dbsnp": "rs746815636",
"frequency_reference_population": 0.0000018595932,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136863,
"gnomad_genomes_af": 0.00000658146,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8698805570602417,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.84,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9705,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.352,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001411048.1",
"gene_symbol": "RAP1GAP2",
"hgnc_id": 29176,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.466G>A",
"hgvs_p": "p.Glu156Lys"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000574885.1",
"gene_symbol": "ENSG00000262884",
"hgnc_id": 58549,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1511C>T",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_110818.1",
"gene_symbol": "RAP1GAP2-AS1",
"hgnc_id": 58549,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1511C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}