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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: 16-58167724-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58167724&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 58167724,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001896.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.585A>C",
"hgvs_p": "p.Ser195Ser",
"transcript": "NM_001896.4",
"protein_id": "NP_001887.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 350,
"cds_start": 585,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262506.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001896.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.585A>C",
"hgvs_p": "p.Ser195Ser",
"transcript": "ENST00000262506.8",
"protein_id": "ENSP00000262506.3",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 350,
"cds_start": 585,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001896.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262506.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.624A>C",
"hgvs_p": "p.Ser208Ser",
"transcript": "ENST00000952604.1",
"protein_id": "ENSP00000622663.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 363,
"cds_start": 624,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952604.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.585A>C",
"hgvs_p": "p.Ser195Ser",
"transcript": "ENST00000931140.1",
"protein_id": "ENSP00000601199.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 350,
"cds_start": 585,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931140.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.585A>C",
"hgvs_p": "p.Ser195Ser",
"transcript": "ENST00000931142.1",
"protein_id": "ENSP00000601201.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 350,
"cds_start": 585,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931142.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.573A>C",
"hgvs_p": "p.Ser191Ser",
"transcript": "ENST00000931138.1",
"protein_id": "ENSP00000601197.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 346,
"cds_start": 573,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931138.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.525A>C",
"hgvs_p": "p.Ser175Ser",
"transcript": "ENST00000931139.1",
"protein_id": "ENSP00000601198.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 330,
"cds_start": 525,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931139.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.525A>C",
"hgvs_p": "p.Ser175Ser",
"transcript": "ENST00000931144.1",
"protein_id": "ENSP00000601203.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 330,
"cds_start": 525,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931144.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.501A>C",
"hgvs_p": "p.Ser167Ser",
"transcript": "ENST00000931145.1",
"protein_id": "ENSP00000601204.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 322,
"cds_start": 501,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931145.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.501A>C",
"hgvs_p": "p.Ser167Ser",
"transcript": "ENST00000952600.1",
"protein_id": "ENSP00000622659.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 322,
"cds_start": 501,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952600.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.432A>C",
"hgvs_p": "p.Ser144Ser",
"transcript": "ENST00000565188.2",
"protein_id": "ENSP00000454874.2",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 299,
"cds_start": 432,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565188.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.432A>C",
"hgvs_p": "p.Ser144Ser",
"transcript": "ENST00000931141.1",
"protein_id": "ENSP00000601200.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 299,
"cds_start": 432,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931141.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.372A>C",
"hgvs_p": "p.Ser124Ser",
"transcript": "ENST00000931143.1",
"protein_id": "ENSP00000601202.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 279,
"cds_start": 372,
"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": "ENST00000931143.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.372A>C",
"hgvs_p": "p.Ser124Ser",
"transcript": "ENST00000952603.1",
"protein_id": "ENSP00000622662.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 279,
"cds_start": 372,
"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": "ENST00000952603.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.348A>C",
"hgvs_p": "p.Ser116Ser",
"transcript": "ENST00000867095.1",
"protein_id": "ENSP00000537154.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 271,
"cds_start": 348,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867095.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.348A>C",
"hgvs_p": "p.Ser116Ser",
"transcript": "ENST00000952601.1",
"protein_id": "ENSP00000622660.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 271,
"cds_start": 348,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952601.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.288A>C",
"hgvs_p": "p.Ser96Ser",
"transcript": "ENST00000952602.1",
"protein_id": "ENSP00000622661.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 251,
"cds_start": 288,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952602.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.225A>C",
"hgvs_p": "p.Ser75Ser",
"transcript": "ENST00000567730.6",
"protein_id": "ENSP00000456606.2",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 230,
"cds_start": 225,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567730.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.585A>C",
"hgvs_p": "p.Ser195Ser",
"transcript": "XM_047433626.1",
"protein_id": "XP_047289582.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 350,
"cds_start": 585,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433626.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.261A>C",
"hgvs_p": "p.Ser87Ser",
"transcript": "XM_017022945.2",
"protein_id": "XP_016878434.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 242,
"cds_start": 261,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022945.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "c.174A>C",
"hgvs_p": "p.Ser58Ser",
"transcript": "XM_005255801.4",
"protein_id": "XP_005255858.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 213,
"cds_start": 174,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255801.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A2",
"gene_hgnc_id": 2459,
"hgvs_c": "n.2394A>C",
"hgvs_p": null,
"transcript": "ENST00000563307.2",
"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",
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{
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"canonical": false,
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"strand": false,
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],
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"biotype": "pseudogene",
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{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "CSNK2A2",
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"transcript": "ENST00000676463.1",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 10,
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"gene_symbol": "CSNK2A2",
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"hgvs_c": "n.2394A>C",
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"transcript": "ENST00000677823.1",
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"biotype": "retained_intron",
"feature": "ENST00000677823.1"
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],
"gene_symbol": "CSNK2A2",
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"dbsnp": "rs2292027",
"frequency_reference_population": 0.0000027364274,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273643,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.107,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001896.4",
"gene_symbol": "CSNK2A2",
"hgnc_id": 2459,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.585A>C",
"hgvs_p": "p.Ser195Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}