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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: 1-205523669-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205523669&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 205523669,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_212503.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "ENST00000506784.5",
"protein_id": "ENSP00000423665.1",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 504,
"cds_start": 317,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506784.5"
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.273+44C>A",
"hgvs_p": null,
"transcript": "NM_212502.3",
"protein_id": "NP_997667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429964.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212502.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.273+44C>A",
"hgvs_p": null,
"transcript": "ENST00000429964.7",
"protein_id": "ENSP00000399082.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_212502.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429964.7"
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.273+44C>A",
"hgvs_p": null,
"transcript": "ENST00000360066.6",
"protein_id": "ENSP00000353176.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360066.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "n.291C>A",
"hgvs_p": null,
"transcript": "ENST00000506215.1",
"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": "ENST00000506215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "n.325C>A",
"hgvs_p": null,
"transcript": "ENST00000507067.1",
"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": "ENST00000507067.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "n.66+44C>A",
"hgvs_p": null,
"transcript": "ENST00000505932.5",
"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": "ENST00000505932.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "n.1197+44C>A",
"hgvs_p": null,
"transcript": "ENST00000515494.5",
"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": "ENST00000515494.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "ENST00000906021.1",
"protein_id": "ENSP00000576080.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 512,
"cds_start": 317,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906021.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "NM_212503.3",
"protein_id": "NP_997668.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 504,
"cds_start": 317,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212503.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "ENST00000906028.1",
"protein_id": "ENSP00000576087.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 504,
"cds_start": 317,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906028.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "ENST00000906029.1",
"protein_id": "ENSP00000576088.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 504,
"cds_start": 317,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906029.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "ENST00000942642.1",
"protein_id": "ENSP00000612701.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 504,
"cds_start": 317,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942642.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Thr85Lys",
"transcript": "ENST00000927130.1",
"protein_id": "ENSP00000597189.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 483,
"cds_start": 254,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927130.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "ENST00000419301.1",
"protein_id": "ENSP00000391324.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 282,
"cds_start": 317,
"cds_end": null,
"cds_length": 851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419301.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.254C>A",
"hgvs_p": "p.Thr85Lys",
"transcript": "ENST00000443813.6",
"protein_id": "ENSP00000397831.2",
"transcript_support_level": 4,
"aa_start": 85,
"aa_end": null,
"aa_length": 158,
"cds_start": 254,
"cds_end": null,
"cds_length": 478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443813.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "XM_047422202.1",
"protein_id": "XP_047278158.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 506,
"cds_start": 317,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422202.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "XM_047422207.1",
"protein_id": "XP_047278163.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 506,
"cds_start": 317,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422207.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "XM_047422209.1",
"protein_id": "XP_047278165.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 506,
"cds_start": 317,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422209.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "XM_047422210.1",
"protein_id": "XP_047278166.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 506,
"cds_start": 317,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422210.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Thr106Lys",
"transcript": "XM_017001423.3",
"protein_id": "XP_016856912.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 504,
"cds_start": 317,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001423.3"
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDK18",
"gene_hgnc_id": 8751,
"hgvs_c": "c.280+44C>A",
"hgvs_p": null,
"transcript": "ENST00000942641.1",
"protein_id": "ENSP00000612700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": null,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942641.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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