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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: 2-173358836-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=173358836&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 173358836,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_031942.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "NM_031942.5",
"protein_id": "NP_114148.3",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 450,
"cds_start": 146,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306721.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031942.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000306721.8",
"protein_id": "ENSP00000306968.3",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 450,
"cds_start": 146,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306721.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000347703.7",
"protein_id": "ENSP00000272789.4",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 371,
"cds_start": 146,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347703.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.217C>T",
"hgvs_p": null,
"transcript": "ENST00000467411.5",
"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": "ENST00000467411.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000911359.1",
"protein_id": "ENSP00000581418.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 451,
"cds_start": 146,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911359.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Met",
"transcript": "ENST00000695912.1",
"protein_id": "ENSP00000512263.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 449,
"cds_start": 143,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695912.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000911364.1",
"protein_id": "ENSP00000581423.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 441,
"cds_start": 146,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911364.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000410101.7",
"protein_id": "ENSP00000386656.3",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 406,
"cds_start": 146,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410101.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000858243.1",
"protein_id": "ENSP00000528302.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 400,
"cds_start": 146,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858243.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000911358.1",
"protein_id": "ENSP00000581417.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 385,
"cds_start": 146,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911358.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000858244.1",
"protein_id": "ENSP00000528303.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 372,
"cds_start": 146,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858244.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "NM_145810.3",
"protein_id": "NP_665809.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 371,
"cds_start": 146,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145810.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Thr48Met",
"transcript": "ENST00000695914.1",
"protein_id": "ENSP00000512265.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 370,
"cds_start": 143,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695914.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000911362.1",
"protein_id": "ENSP00000581421.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 368,
"cds_start": 146,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911362.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000695901.1",
"protein_id": "ENSP00000512251.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 321,
"cds_start": 146,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695901.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000911360.1",
"protein_id": "ENSP00000581419.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 306,
"cds_start": 146,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911360.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "ENST00000911361.1",
"protein_id": "ENSP00000581420.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 266,
"cds_start": 146,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911361.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met",
"transcript": "XM_047445957.1",
"protein_id": "XP_047301913.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 243,
"cds_start": 146,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.21+3852C>T",
"hgvs_p": null,
"transcript": "ENST00000410019.3",
"protein_id": "ENSP00000386833.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410019.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "c.21+3852C>T",
"hgvs_p": null,
"transcript": "ENST00000911363.1",
"protein_id": "ENSP00000581422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.146C>T",
"hgvs_p": null,
"transcript": "ENST00000435616.5",
"protein_id": "ENSP00000390470.1",
"transcript_support_level": 3,
"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": "ENST00000435616.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.330C>T",
"hgvs_p": null,
"transcript": "ENST00000468359.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000468359.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.238C>T",
"hgvs_p": null,
"transcript": "ENST00000496441.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000496441.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"hgvs_c": "n.146C>T",
"hgvs_p": null,
"transcript": "ENST00000695913.1",
"protein_id": "ENSP00000512264.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000695913.1"
}
],
"gene_symbol": "CDCA7",
"gene_hgnc_id": 14628,
"dbsnp": "rs758866134",
"frequency_reference_population": 0.000017810122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000178101,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30175936222076416,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8140000104904175,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.379,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1562,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.12,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.995612331766151,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031942.5",
"gene_symbol": "CDCA7",
"hgnc_id": 14628,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}