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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: 1-172393809-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=172393809&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 172393809,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000627582.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "n.986C>A",
"hgvs_p": null,
"transcript": "ENST00000484368.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1661,
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2522+5000G>T",
"hgvs_p": null,
"transcript": "NM_015569.5",
"protein_id": "NP_056384.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7627,
"mane_select": "ENST00000627582.3",
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2522+5000G>T",
"hgvs_p": null,
"transcript": "ENST00000627582.3",
"protein_id": "ENSP00000486701.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7627,
"mane_select": "NM_015569.5",
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2510+5000G>T",
"hgvs_p": null,
"transcript": "ENST00000367731.5",
"protein_id": "ENSP00000356705.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7613,
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2540+5000G>T",
"hgvs_p": null,
"transcript": "ENST00000485254.3",
"protein_id": "ENSP00000429165.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": -4,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC102724528",
"gene_hgnc_id": null,
"hgvs_c": "n.1560C>A",
"hgvs_p": null,
"transcript": "XR_001738294.3",
"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": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC102724528",
"gene_hgnc_id": null,
"hgvs_c": "n.1533C>A",
"hgvs_p": null,
"transcript": "XR_922284.4",
"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": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.*324G>T",
"hgvs_p": null,
"transcript": "XM_017000982.3",
"protein_id": "XP_016856471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": -4,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 21968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.*324G>T",
"hgvs_p": null,
"transcript": "XM_017000985.2",
"protein_id": "XP_016856474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": -4,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.*324G>T",
"hgvs_p": null,
"transcript": "XM_017000986.2",
"protein_id": "XP_016856475.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 815,
"cds_start": -4,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3084,
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2540+5000G>T",
"hgvs_p": null,
"transcript": "NM_001350204.2",
"protein_id": "NP_001337133.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2540+5000G>T",
"hgvs_p": null,
"transcript": "ENST00000355305.9",
"protein_id": "ENSP00000347457.5",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2510+5000G>T",
"hgvs_p": null,
"transcript": "NM_001136127.3",
"protein_id": "NP_001129599.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2540+5000G>T",
"hgvs_p": null,
"transcript": "NM_001350206.2",
"protein_id": "NP_001337135.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "n.181+6010C>A",
"hgvs_p": null,
"transcript": "ENST00000475059.5",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"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": 2,
"intron_rank_end": null,
"gene_symbol": "PIGC",
"gene_hgnc_id": 8960,
"hgvs_c": "n.131+6010C>A",
"hgvs_p": null,
"transcript": "ENST00000489002.5",
"protein_id": null,
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},
{
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],
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"intron_rank": 20,
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"gene_symbol": "DNM3",
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"hgvs_c": "n.2715+5000G>T",
"hgvs_p": null,
"transcript": "NR_146559.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2696+5000G>T",
"hgvs_p": null,
"transcript": "XM_017000976.2",
"protein_id": "XP_016856465.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DNM3",
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"hgvs_c": "c.2684+5000G>T",
"hgvs_p": null,
"transcript": "XM_017000977.2",
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},
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],
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"gene_symbol": "DNM3",
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},
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],
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"gene_symbol": "DNM3",
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"hgvs_c": "c.2696+5000G>T",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2567+5000G>T",
"hgvs_p": null,
"transcript": "XM_017000980.2",
"protein_id": "XP_016856469.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DNM3",
"gene_hgnc_id": 29125,
"hgvs_c": "c.2552+5000G>T",
"hgvs_p": null,
"transcript": "XM_005245079.2",
"protein_id": "XP_005245136.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
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{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.84,
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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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"
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"verdict": "Benign",
"transcript": "ENST00000627582.3",
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"effects": [
"intron_variant"
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"inheritance_mode": "",
"hgvs_c": "c.2522+5000G>T",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000484368.1",
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"non_coding_transcript_exon_variant"
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"inheritance_mode": "AR",
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{
"score": -12,
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"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "XR_922284.4",
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"non_coding_transcript_exon_variant"
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"hgvs_c": "n.1533C>A",
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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
}