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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: 8-1771527-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1771527&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 1771527,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018941.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "NM_018941.4",
"protein_id": "NP_061764.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "ENST00000331222.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018941.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000331222.6",
"protein_id": "ENSP00000328182.4",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "NM_018941.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331222.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.473A>G",
"hgvs_p": null,
"transcript": "ENST00000635855.1",
"protein_id": "ENSP00000489726.1",
"transcript_support_level": 5,
"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": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635855.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000519254.2",
"protein_id": "ENSP00000490016.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519254.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000635751.1",
"protein_id": "ENSP00000489694.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635751.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000637083.1",
"protein_id": "ENSP00000490235.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637083.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000637156.1",
"protein_id": "ENSP00000490458.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637156.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000859935.1",
"protein_id": "ENSP00000529994.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859935.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000859937.1",
"protein_id": "ENSP00000529996.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859937.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000859938.1",
"protein_id": "ENSP00000529997.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859938.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000859939.1",
"protein_id": "ENSP00000529998.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859939.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000859940.1",
"protein_id": "ENSP00000529999.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859940.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000859941.1",
"protein_id": "ENSP00000530000.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859941.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000933685.1",
"protein_id": "ENSP00000603744.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933685.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000933688.1",
"protein_id": "ENSP00000603747.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933688.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000933689.1",
"protein_id": "ENSP00000603748.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933689.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000933692.1",
"protein_id": "ENSP00000603751.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933692.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000965220.1",
"protein_id": "ENSP00000635279.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 1552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965220.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000965221.1",
"protein_id": "ENSP00000635280.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 1288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965221.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000965222.1",
"protein_id": "ENSP00000635281.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 286,
"cds_start": 473,
"cds_end": null,
"cds_length": 861,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965222.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000520991.3",
"protein_id": "ENSP00000487905.2",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 216,
"cds_start": 473,
"cds_end": null,
"cds_length": 651,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520991.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "ENST00000636934.1",
"protein_id": "ENSP00000490218.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 216,
"cds_start": 473,
"cds_end": null,
"cds_length": 651,
"cdna_start": 682,
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}
],
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}