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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: 19-40347585-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40347585&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C19orf47",
"hgnc_id": 26723,
"hgvs_c": "c.78+852G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001256440.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 102909,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.05,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0499999523162842,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256441.2",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-34+739G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683109.1",
"protein_coding": true,
"protein_id": "NP_001243370.1",
"strand": false,
"transcript": "NM_001256441.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683109.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-34+739G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256441.2",
"protein_coding": true,
"protein_id": "ENSP00000508349.1",
"strand": false,
"transcript": "ENST00000683109.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": null,
"cds_end": null,
"cds_length": 1269,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582783.5",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.78+852G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463159.1",
"strand": false,
"transcript": "ENST00000582783.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": null,
"cds_end": null,
"cds_length": 1068,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392035.6",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-177+739G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375889.2",
"strand": false,
"transcript": "ENST00000392035.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_024451365.2",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-430G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307133.1",
"strand": false,
"transcript": "XM_024451365.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4671,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047438177.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-463G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294133.1",
"strand": false,
"transcript": "XM_047438177.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": null,
"cds_end": null,
"cds_length": 1269,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256440.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.78+852G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243369.1",
"strand": false,
"transcript": "NM_001256440.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897518.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-156-274G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567577.1",
"strand": false,
"transcript": "ENST00000897518.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897519.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-210-220G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567578.1",
"strand": false,
"transcript": "ENST00000897519.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 385,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2078,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897520.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-67+739G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567579.1",
"strand": false,
"transcript": "ENST00000897520.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000931071.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-189-274G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000601130.1",
"strand": false,
"transcript": "ENST00000931071.1",
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},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000931072.1",
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"protein_coding": true,
"protein_id": "ENSP00000601131.1",
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},
{
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],
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"feature": "ENST00000582006.5",
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"gene_symbol": "C19orf47",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000463305.1",
"strand": false,
"transcript": "ENST00000582006.5",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
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"feature": "XM_005258520.3",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.78+852G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005258577.1",
"strand": false,
"transcript": "XM_005258520.3",
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},
{
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"consequences": [
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],
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"feature": "XM_047438175.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.78+852G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047294131.1",
"strand": false,
"transcript": "XM_047438175.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "XM_017026291.2",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-34+739G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016881780.1",
"strand": false,
"transcript": "XM_017026291.2",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_011526460.3",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.78+852G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_id": "XP_011524762.1",
"strand": false,
"transcript": "XM_011526460.3",
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},
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],
"exon_count": 10,
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"strand": false,
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},
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],
"exon_count": 10,
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"feature": "XM_017026293.3",
"gene_hgnc_id": 26723,
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"hgvs_c": "c.-34+739G>A",
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"protein_coding": true,
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"strand": false,
"transcript": "XM_017026293.3",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
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"feature": "XM_024451364.2",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-34+739G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307132.1",
"strand": false,
"transcript": "XM_024451364.2",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1032,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438176.1",
"gene_hgnc_id": 26723,
"gene_symbol": "C19orf47",
"hgvs_c": "c.-34+739G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294132.1",
"strand": false,
"transcript": "XM_047438176.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
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