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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: 20-2503238-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=2503238&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 2503238,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000278772.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "NM_024325.6",
"protein_id": "NP_077301.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": "ENST00000278772.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "ENST00000278772.9",
"protein_id": "ENSP00000278772.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": "NM_024325.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-346-2496G>A",
"hgvs_p": null,
"transcript": "ENST00000445484.5",
"protein_id": "ENSP00000399682.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "ENST00000381253.5",
"protein_id": "ENSP00000370652.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256566",
"gene_hgnc_id": null,
"hgvs_c": "n.-236-2496G>A",
"hgvs_p": null,
"transcript": "ENST00000461548.1",
"protein_id": "ENSP00000456213.1",
"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": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "NM_001282497.2",
"protein_id": "NP_001269426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "NM_001321801.2",
"protein_id": "NP_001308730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-346-2496G>A",
"hgvs_p": null,
"transcript": "ENST00000612935.4",
"protein_id": "ENSP00000482819.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "NM_001321802.2",
"protein_id": "NP_001308731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "NM_001321803.2",
"protein_id": "NP_001308732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-346-2496G>A",
"hgvs_p": null,
"transcript": "NM_001282495.1",
"protein_id": "NP_001269424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-194-2496G>A",
"hgvs_p": null,
"transcript": "NM_001282496.2",
"protein_id": "NP_001269425.1",
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"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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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "NM_001321800.2",
"protein_id": "NP_001308729.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "NM_001321805.2",
"protein_id": "NP_001308734.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ZNF343",
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"hgvs_c": "c.-180-2496G>A",
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"transcript": "NM_001282498.2",
"protein_id": "NP_001269427.1",
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-180-2496G>A",
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"transcript": "ENST00000617391.4",
"protein_id": "ENSP00000483851.1",
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"aa_start": null,
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},
{
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],
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"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "NM_001282499.3",
"protein_id": "NP_001269428.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-346-2496G>A",
"hgvs_p": null,
"transcript": "ENST00000358413.6",
"protein_id": "ENSP00000351188.2",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ZNF343",
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"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "ENST00000421216.1",
"protein_id": "ENSP00000416488.1",
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},
{
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],
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"gene_symbol": "ZNF343",
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"hgvs_c": "n.-236-2496G>A",
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"transcript": "ENST00000674000.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ZNF343",
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"hgvs_c": "c.-236-2496G>A",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-381-2496G>A",
"hgvs_p": null,
"transcript": "XM_047440475.1",
"protein_id": "XP_047296431.1",
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.-236-2496G>A",
"hgvs_p": null,
"transcript": "XM_047440476.1",
"protein_id": "XP_047296432.1",
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"cdna_start": null,
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"mane_select": null,
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
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{
"score": -2,
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],
"verdict": "Likely_benign",
"transcript": "ENST00000461548.1",
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],
"inheritance_mode": "",
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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
}