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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: 9-32986042-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=32986042&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 32986042,
"ref": "AC",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000379817.7",
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.484-13delG",
"hgvs_p": null,
"transcript": "NM_001195248.2",
"protein_id": "NP_001182177.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": "ENST00000379817.7",
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.484-13delG",
"hgvs_p": null,
"transcript": "ENST00000379817.7",
"protein_id": "ENSP00000369145.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": "NM_001195248.2",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.484-13delG",
"hgvs_p": null,
"transcript": "ENST00000379819.6",
"protein_id": "ENSP00000369147.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1938,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.484-13delG",
"hgvs_p": null,
"transcript": "ENST00000463596.6",
"protein_id": "ENSP00000419846.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1345,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.484-13delG",
"hgvs_p": null,
"transcript": "ENST00000468275.6",
"protein_id": "ENSP00000420263.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1213,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.322-13delG",
"hgvs_p": null,
"transcript": "ENST00000309615.8",
"protein_id": "ENSP00000311547.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1742,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.322-13delG",
"hgvs_p": null,
"transcript": "ENST00000436040.7",
"protein_id": "ENSP00000400806.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1846,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.322-13delG",
"hgvs_p": null,
"transcript": "ENST00000476858.6",
"protein_id": "ENSP00000419042.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1068,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.268-13delG",
"hgvs_p": null,
"transcript": "ENST00000397172.8",
"protein_id": "ENSP00000380357.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": -4,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1740,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*329-13delG",
"hgvs_p": null,
"transcript": "ENST00000460940.6",
"protein_id": "ENSP00000418311.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1725,
"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": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*214-13delG",
"hgvs_p": null,
"transcript": "ENST00000464632.6",
"protein_id": "ENSP00000418069.2",
"transcript_support_level": 1,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "APTX",
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"hgvs_c": "n.*214-13delG",
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"transcript": "ENST00000465003.6",
"protein_id": "ENSP00000419430.2",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 8,
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"gene_symbol": "APTX",
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"hgvs_c": "n.*329-13delG",
"hgvs_p": null,
"transcript": "ENST00000467331.6",
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},
{
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"strand": false,
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],
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"gene_symbol": "APTX",
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"hgvs_c": "n.*278-13delG",
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"transcript": "ENST00000472896.6",
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},
{
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],
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"transcript": "ENST00000478279.6",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "APTX",
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"hgvs_c": "n.*329-13delG",
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"transcript": "ENST00000479656.6",
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},
{
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],
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"transcript": "ENST00000482687.6",
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},
{
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],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*111-13delG",
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"transcript": "ENST00000483148.6",
"protein_id": "ENSP00000419723.1",
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},
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "n.*205-13delG",
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"transcript": "ENST00000485479.6",
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],
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},
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],
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"gene_symbol": "APTX",
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"transcript": "NM_001195249.2",
"protein_id": "NP_001182178.1",
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},
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],
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"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.484-13delG",
"hgvs_p": null,
"transcript": "NM_001368995.1",
"protein_id": "NP_001355924.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "APTX",
"gene_hgnc_id": 15984,
"hgvs_c": "c.484-13delG",
"hgvs_p": null,
"transcript": "NM_001368996.1",
"protein_id": "NP_001355925.1",
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},
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"consequences": [
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],
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{
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}