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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: 7-100057066-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100057066&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100057066,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_145914.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "NM_145914.3",
"protein_id": "NP_666019.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292450.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145914.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000292450.9",
"protein_id": "ENSP00000292450.4",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145914.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292450.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "NM_001362779.2",
"protein_id": "NP_001349708.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362779.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "NM_001362780.2",
"protein_id": "NP_001349709.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362780.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000906173.1",
"protein_id": "ENSP00000576232.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906173.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000906174.1",
"protein_id": "ENSP00000576233.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906174.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000906175.1",
"protein_id": "ENSP00000576234.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906175.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000906176.1",
"protein_id": "ENSP00000576235.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906176.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000906177.1",
"protein_id": "ENSP00000576236.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906177.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000906178.1",
"protein_id": "ENSP00000576237.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906178.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000906179.1",
"protein_id": "ENSP00000576238.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906179.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000906180.1",
"protein_id": "ENSP00000576239.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906180.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000938146.1",
"protein_id": "ENSP00000608205.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938146.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000938147.1",
"protein_id": "ENSP00000608206.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938147.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000938148.1",
"protein_id": "ENSP00000608207.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938148.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000938149.1",
"protein_id": "ENSP00000608208.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938149.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000938150.1",
"protein_id": "ENSP00000608209.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938150.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "NM_001362781.2",
"protein_id": "NP_001349710.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 450,
"cds_start": 60,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362781.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000456748.6",
"protein_id": "ENSP00000390960.2",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 450,
"cds_start": 60,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456748.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "ENST00000438937.1",
"protein_id": "ENSP00000404207.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 180,
"cds_start": 60,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438937.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "XM_005250568.5",
"protein_id": "XP_005250625.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250568.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN21",
"gene_hgnc_id": 13104,
"hgvs_c": "c.60G>A",
"hgvs_p": "p.Gln20Gln",
"transcript": "XM_006716113.4",
"protein_id": "XP_006716176.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 473,
"cds_start": 60,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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"biotype": "pseudogene",
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.403,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "NM_145914.3",
"gene_symbol": "ZSCAN21",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}