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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: 20-10035559-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=10035559&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 10035559,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000378392.6",
"consequences": [
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "c.-108-20C>G",
"hgvs_p": null,
"transcript": "NM_022096.6",
"protein_id": "NP_071379.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5429,
"mane_select": "ENST00000378392.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "c.-108-20C>G",
"hgvs_p": null,
"transcript": "ENST00000378392.6",
"protein_id": "ENSP00000367644.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5429,
"mane_select": "NM_022096.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "c.-45+226C>G",
"hgvs_p": null,
"transcript": "NM_198798.3",
"protein_id": "NP_942093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "c.-45+226C>G",
"hgvs_p": null,
"transcript": "ENST00000378380.4",
"protein_id": "ENSP00000367631.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": -4,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "c.-658+226C>G",
"hgvs_p": null,
"transcript": "NM_001303472.2",
"protein_id": "NP_001290401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.362-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000421143.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "n.395-7563C>G",
"hgvs_p": null,
"transcript": "ENST00000437504.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "n.217+226C>G",
"hgvs_p": null,
"transcript": "ENST00000488991.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.748-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000603542.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.629-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000655307.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.209-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000656496.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.610-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000658443.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.709-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000660550.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2302,
"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.533-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000661614.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SNAP25-AS1",
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"hgvs_c": "n.497-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000662559.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.620-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000663466.1",
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},
{
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],
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"gene_symbol": "SNAP25-AS1",
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"hgvs_c": "n.594-8911G>C",
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"transcript": "ENST00000664172.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.656-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000666905.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.497-8911G>C",
"hgvs_p": null,
"transcript": "ENST00000667042.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNAP25-AS1",
"gene_hgnc_id": 44312,
"hgvs_c": "n.500-8911G>C",
"hgvs_p": null,
"transcript": "NR_040710.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "c.-2635+226C>G",
"hgvs_p": null,
"transcript": "XM_047440366.1",
"protein_id": "XP_047296322.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 587,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKEF1",
"gene_hgnc_id": 15803,
"hgvs_c": "c.-2698-20C>G",
"hgvs_p": null,
"transcript": "XM_047440367.1",
"protein_id": "XP_047296323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.021,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000378392.6",
"gene_symbol": "ANKEF1",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000603542.6",
"gene_symbol": "SNAP25-AS1",
"hgnc_id": 44312,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.748-8911G>C",
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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
}