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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: 19-40715608-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40715608&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40715608,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000324464.8",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-3-973C>A",
"hgvs_p": null,
"transcript": "NM_024876.4",
"protein_id": "NP_079152.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": "ENST00000324464.8",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-3-973C>A",
"hgvs_p": null,
"transcript": "ENST00000324464.8",
"protein_id": "ENSP00000315118.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": "NM_024876.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-287C>A",
"hgvs_p": null,
"transcript": "ENST00000678404.1",
"protein_id": "ENSP00000503944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-25C>A",
"hgvs_p": null,
"transcript": "ENST00000600707.5",
"protein_id": "ENSP00000472978.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": -4,
"cds_end": null,
"cds_length": 364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 394,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-3-973C>A",
"hgvs_p": null,
"transcript": "ENST00000594720.6",
"protein_id": "ENSP00000470876.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2194,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-3-973C>A",
"hgvs_p": null,
"transcript": "ENST00000677018.1",
"protein_id": "ENSP00000503480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2297,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-4+99C>A",
"hgvs_p": null,
"transcript": "ENST00000679130.1",
"protein_id": "ENSP00000504845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2305,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-158-1211C>A",
"hgvs_p": null,
"transcript": "ENST00000677496.1",
"protein_id": "ENSP00000504773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": -4,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2046,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-416+99C>A",
"hgvs_p": null,
"transcript": "ENST00000679012.1",
"protein_id": "ENSP00000504446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2273,
"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": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "c.-3-973C>A",
"hgvs_p": null,
"transcript": "ENST00000594084.5",
"protein_id": "ENSP00000473189.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 594,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.89+99C>A",
"hgvs_p": null,
"transcript": "ENST00000593724.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 3979,
"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": 14,
"intron_rank": 1,
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"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.146+99C>A",
"hgvs_p": null,
"transcript": "ENST00000596455.6",
"protein_id": null,
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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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"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": 7,
"intron_rank": 1,
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"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.-4+311C>A",
"hgvs_p": null,
"transcript": "ENST00000599643.5",
"protein_id": "ENSP00000471192.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": 6,
"intron_rank": 1,
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"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.300-973C>A",
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"transcript": "ENST00000601451.5",
"protein_id": null,
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},
{
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"strand": false,
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],
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"intron_rank": 1,
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"gene_symbol": "COQ8B",
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"hgvs_c": "n.-4+99C>A",
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"transcript": "ENST00000676578.1",
"protein_id": "ENSP00000504076.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.26-973C>A",
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"transcript": "ENST00000676651.1",
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},
{
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],
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"gene_symbol": "COQ8B",
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"hgvs_c": "n.17-516C>A",
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"transcript": "ENST00000677039.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.297-973C>A",
"hgvs_p": null,
"transcript": "ENST00000677399.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.-3-973C>A",
"hgvs_p": null,
"transcript": "ENST00000677633.1",
"protein_id": "ENSP00000503645.1",
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},
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],
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"gene_symbol": "COQ8B",
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"hgvs_c": "n.-3-973C>A",
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},
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],
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"gene_symbol": "COQ8B",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.296+979C>A",
"hgvs_p": null,
"transcript": "ENST00000678312.1",
"protein_id": 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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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ8B",
"gene_hgnc_id": 19041,
"hgvs_c": "n.-3-973C>A",
"hgvs_p": null,
"transcript": "ENST00000678316.1",
"protein_id": "ENSP00000504112.1",
"transcript_support_level": null,
"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,
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},
{
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"protein_coding": false,
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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"
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"verdict": "Likely_benign",
"transcript": "ENST00000324464.8",
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"effects": [
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"inheritance_mode": "AR,AD",
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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
}