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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: 22-19235829-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19235829&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19235829,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000427926.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "NM_007098.4",
"protein_id": "NP_009029.3",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1640,
"cds_start": 836,
"cds_end": null,
"cds_length": 4923,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": "ENST00000427926.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "ENST00000427926.6",
"protein_id": "ENSP00000441158.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 1640,
"cds_start": 836,
"cds_end": null,
"cds_length": 4923,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": "NM_007098.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "ENST00000621271.4",
"protein_id": "ENSP00000485020.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 1583,
"cds_start": 836,
"cds_end": null,
"cds_length": 4752,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 5313,
"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": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.856A>G",
"hgvs_p": null,
"transcript": "ENST00000615606.4",
"protein_id": null,
"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": 4994,
"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": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "n.836A>G",
"hgvs_p": null,
"transcript": "ENST00000617103.4",
"protein_id": "ENSP00000480709.1",
"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": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "NM_001835.4",
"protein_id": "NP_001826.3",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1583,
"cds_start": 836,
"cds_end": null,
"cds_length": 4752,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 5347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_017028953.3",
"protein_id": "XP_016884442.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1632,
"cds_start": 836,
"cds_end": null,
"cds_length": 4899,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Tyr241Cys",
"transcript": "XM_017028954.3",
"protein_id": "XP_016884443.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1602,
"cds_start": 722,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_047441512.1",
"protein_id": "XP_047297468.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1575,
"cds_start": 836,
"cds_end": null,
"cds_length": 4728,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_017028955.3",
"protein_id": "XP_016884444.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1568,
"cds_start": 836,
"cds_end": null,
"cds_length": 4707,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 5302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_017028956.3",
"protein_id": "XP_016884445.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1546,
"cds_start": 836,
"cds_end": null,
"cds_length": 4641,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 5236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Tyr185Cys",
"transcript": "XM_047441514.1",
"protein_id": "XP_047297470.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 1546,
"cds_start": 554,
"cds_end": null,
"cds_length": 4641,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 6275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Tyr241Cys",
"transcript": "XM_047441515.1",
"protein_id": "XP_047297471.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1545,
"cds_start": 722,
"cds_end": null,
"cds_length": 4638,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.Tyr241Cys",
"transcript": "XM_047441517.1",
"protein_id": "XP_047297473.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1508,
"cds_start": 722,
"cds_end": null,
"cds_length": 4527,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_047441519.1",
"protein_id": "XP_047297475.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1467,
"cds_start": 836,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_047441521.1",
"protein_id": "XP_047297477.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1260,
"cds_start": 836,
"cds_end": null,
"cds_length": 3783,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_047441522.1",
"protein_id": "XP_047297478.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1234,
"cds_start": 836,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_017028957.3",
"protein_id": "XP_016884446.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1165,
"cds_start": 836,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys",
"transcript": "XM_047441523.1",
"protein_id": "XP_047297479.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1165,
"cds_start": 836,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.796-1123A>G",
"hgvs_p": null,
"transcript": "XM_047441511.1",
"protein_id": "XP_047297467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1582,
"cds_start": -4,
"cds_end": null,
"cds_length": 4749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.796-1123A>G",
"hgvs_p": null,
"transcript": "XM_047441513.1",
"protein_id": "XP_047297469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1574,
"cds_start": -4,
"cds_end": null,
"cds_length": 4725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.796-1123A>G",
"hgvs_p": null,
"transcript": "XM_047441516.1",
"protein_id": "XP_047297472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.796-1123A>G",
"hgvs_p": null,
"transcript": "XM_047441518.1",
"protein_id": "XP_047297474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1488,
"cds_start": -4,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"hgvs_c": "c.796-1123A>G",
"hgvs_p": null,
"transcript": "XM_047441520.1",
"protein_id": "XP_047297476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1409,
"cds_start": -4,
"cds_end": null,
"cds_length": 4230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLTCL1",
"gene_hgnc_id": 2093,
"dbsnp": "rs807459",
"frequency_reference_population": 0.0660685,
"hom_count_reference_population": 3740,
"allele_count_reference_population": 106615,
"gnomad_exomes_af": 0.0665157,
"gnomad_genomes_af": 0.0617768,
"gnomad_exomes_ac": 97208,
"gnomad_genomes_ac": 9407,
"gnomad_exomes_homalt": 3388,
"gnomad_genomes_homalt": 352,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009658187627792358,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.0986,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.854,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000427926.6",
"gene_symbol": "CLTCL1",
"hgnc_id": 2093,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Tyr279Cys"
}
],
"clinvar_disease": "CLTCL1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|CLTCL1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}