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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: 8-1780372-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1780372&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 1780372,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_018941.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "NM_018941.4",
"protein_id": "NP_061764.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331222.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018941.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000331222.6",
"protein_id": "ENSP00000328182.4",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.543+8775G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635855.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000519254.2",
"protein_id": "ENSP00000490016.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519254.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000635751.1",
"protein_id": "ENSP00000489694.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635751.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000637083.1",
"protein_id": "ENSP00000490235.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637083.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000637156.1",
"protein_id": "ENSP00000490458.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637156.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000859935.1",
"protein_id": "ENSP00000529994.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859935.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000859937.1",
"protein_id": "ENSP00000529996.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859937.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000859938.1",
"protein_id": "ENSP00000529997.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859938.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000859939.1",
"protein_id": "ENSP00000529998.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859939.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000859940.1",
"protein_id": "ENSP00000529999.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859940.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000859941.1",
"protein_id": "ENSP00000530000.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859941.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000933685.1",
"protein_id": "ENSP00000603744.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933685.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000933688.1",
"protein_id": "ENSP00000603747.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933688.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000933689.1",
"protein_id": "ENSP00000603748.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933689.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000933692.1",
"protein_id": "ENSP00000603751.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933692.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000965220.1",
"protein_id": "ENSP00000635279.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965220.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000965221.1",
"protein_id": "ENSP00000635280.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965221.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "ENST00000965222.1",
"protein_id": "ENSP00000635281.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965222.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "XM_005266021.5",
"protein_id": "XP_005266078.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266021.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.666G>A",
"hgvs_p": "p.Leu222Leu",
"transcript": "XM_005266022.2",
"protein_id": "XP_005266079.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 286,
"cds_start": 666,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"computational_score_selected": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.028,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_018941.4",
"gene_symbol": "CLN8",
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"effects": [
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],
"inheritance_mode": "AR,AD",
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{
"score": -12,
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"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000635855.1",
"gene_symbol": "KBTBD11-OT1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Neuronal ceroid lipofuscinosis|Inborn genetic diseases|CLN8-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}