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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: 14-89989844-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89989844&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TDP1",
"hgnc_id": 18884,
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_018319.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 608,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": null,
"cds_end": null,
"cds_length": 1827,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018319.4",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335725.9",
"protein_coding": true,
"protein_id": "NP_060789.2",
"strand": true,
"transcript": "NM_018319.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 608,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3722,
"cdna_start": null,
"cds_end": null,
"cds_length": 1827,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335725.9",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018319.4",
"protein_coding": true,
"protein_id": "ENSP00000337353.4",
"strand": true,
"transcript": "ENST00000335725.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 608,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": null,
"cds_end": null,
"cds_length": 1827,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393454.6",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377099.2",
"strand": true,
"transcript": "ENST00000393454.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 589,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393452.7",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377098.3",
"strand": true,
"transcript": "ENST00000393452.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1076,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556063.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.286+79G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450795.1",
"strand": true,
"transcript": "ENST00000556063.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545686.6",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "n.*689+79G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444587.2",
"strand": true,
"transcript": "ENST00000545686.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 675,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": null,
"cds_end": null,
"cds_length": 2028,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935815.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1441+79G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605874.1",
"strand": true,
"transcript": "ENST00000935815.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894818.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564877.1",
"strand": true,
"transcript": "ENST00000894818.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 633,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": null,
"cds_end": null,
"cds_length": 1902,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935816.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1441+79G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605875.1",
"strand": true,
"transcript": "ENST00000935816.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": null,
"cds_end": null,
"cds_length": 1848,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935818.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1387+79G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605877.1",
"strand": true,
"transcript": "ENST00000935818.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001008744.2",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008744.1",
"strand": true,
"transcript": "NM_001008744.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": null,
"cds_end": null,
"cds_length": 1827,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000894814.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564873.1",
"strand": true,
"transcript": "ENST00000894814.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000894815.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564874.1",
"strand": true,
"transcript": "ENST00000894815.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894816.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564875.1",
"strand": true,
"transcript": "ENST00000894816.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000894817.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564876.1",
"strand": true,
"transcript": "ENST00000894817.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 2354,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000894819.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564878.1",
"strand": true,
"transcript": "ENST00000894819.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894820.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000564879.1",
"strand": true,
"transcript": "ENST00000894820.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
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"feature": "ENST00000935812.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
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"protein_id": "ENSP00000605871.1",
"strand": true,
"transcript": "ENST00000935812.1",
"transcript_support_level": null
},
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"consequences": [
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],
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"feature": "ENST00000935813.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605872.1",
"strand": true,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935814.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605873.1",
"strand": true,
"transcript": "ENST00000935814.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1827,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935817.1",
"gene_hgnc_id": 18884,
"gene_symbol": "TDP1",
"hgvs_c": "c.1366+79G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605876.1",
"strand": true,
"transcript": "ENST00000935817.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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