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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: 5-69174404-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69174404&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 69174404,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_031966.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "NM_031966.4",
"protein_id": "NP_114172.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 433,
"cds_start": 700,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": "ENST00000256442.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031966.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000256442.10",
"protein_id": "ENSP00000256442.5",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 433,
"cds_start": 700,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": "NM_031966.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256442.10"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000506572.5",
"protein_id": "ENSP00000423387.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 400,
"cds_start": 700,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506572.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000505500.5",
"protein_id": "ENSP00000424588.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 395,
"cds_start": 700,
"cds_end": null,
"cds_length": 1190,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505500.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.718A>G",
"hgvs_p": "p.Met240Val",
"transcript": "ENST00000870642.1",
"protein_id": "ENSP00000540701.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 439,
"cds_start": 718,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870642.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Met239Val",
"transcript": "ENST00000924410.1",
"protein_id": "ENSP00000594469.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 438,
"cds_start": 715,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924410.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000924409.1",
"protein_id": "ENSP00000594468.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 435,
"cds_start": 700,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924409.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000924413.1",
"protein_id": "ENSP00000594472.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 433,
"cds_start": 700,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924413.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Met232Val",
"transcript": "ENST00000924408.1",
"protein_id": "ENSP00000594467.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 431,
"cds_start": 694,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924408.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Met198Val",
"transcript": "ENST00000924407.1",
"protein_id": "ENSP00000594466.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 397,
"cds_start": 592,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924407.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "NM_001354844.2",
"protein_id": "NP_001341773.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 396,
"cds_start": 700,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354844.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000924414.1",
"protein_id": "ENSP00000594473.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 386,
"cds_start": 700,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924414.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Met177Val",
"transcript": "ENST00000924416.1",
"protein_id": "ENSP00000594475.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 376,
"cds_start": 529,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924416.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000924423.1",
"protein_id": "ENSP00000594482.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 321,
"cds_start": 700,
"cds_end": null,
"cds_length": 966,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924423.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000924411.1",
"protein_id": "ENSP00000594470.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 307,
"cds_start": 700,
"cds_end": null,
"cds_length": 924,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924411.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Met50Val",
"transcript": "ENST00000507798.1",
"protein_id": "ENSP00000426230.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 185,
"cds_start": 148,
"cds_end": null,
"cds_length": 558,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507798.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.633+67A>G",
"hgvs_p": null,
"transcript": "ENST00000924422.1",
"protein_id": "ENSP00000594481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": null,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924422.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.565-473A>G",
"hgvs_p": null,
"transcript": "ENST00000924420.1",
"protein_id": "ENSP00000594479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": null,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924420.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.547-473A>G",
"hgvs_p": null,
"transcript": "NM_001354845.2",
"protein_id": "NP_001341774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354845.2"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.445-473A>G",
"hgvs_p": null,
"transcript": "ENST00000924418.1",
"protein_id": "ENSP00000594477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924418.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.364-473A>G",
"hgvs_p": null,
"transcript": "ENST00000924417.1",
"protein_id": "ENSP00000594476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": null,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924417.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CCNB1",
"gene_hgnc_id": 1579,
"hgvs_c": "c.547-993A>G",
"hgvs_p": null,
"transcript": "ENST00000924415.1",
"protein_id": "ENSP00000594474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924415.1"
},
{
"aa_ref": null,
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{
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{
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{
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{
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{
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],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "CCNB1",
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"dbsnp": "rs779907665",
"frequency_reference_population": 0.000013019849,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136917,
"gnomad_genomes_af": 0.00000657125,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5423130989074707,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.339,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031966.4",
"gene_symbol": "CCNB1",
"hgnc_id": 1579,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val"
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],
"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
}