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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: 5-119165286-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119165286&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP6_Moderate",
"BA1"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "DMXL1",
"hgnc_id": 2937,
"hgvs_c": "c.4970+7delA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000539542.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_score": -10,
"allele_count_reference_population": 229073,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3048,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11538,
"cdna_start": null,
"cds_end": null,
"cds_length": 9147,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290321.3",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+24delA",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000539542.6",
"protein_coding": true,
"protein_id": "NP_001277250.1",
"strand": true,
"transcript": "NM_001290321.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3048,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11538,
"cdna_start": null,
"cds_end": null,
"cds_length": 9147,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539542.6",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+7delA",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001290321.3",
"protein_coding": true,
"protein_id": "ENSP00000439479.1",
"strand": true,
"transcript": "ENST00000539542.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3027,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11072,
"cdna_start": null,
"cds_end": null,
"cds_length": 9084,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000311085.8",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+7delA",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000309690.8",
"strand": true,
"transcript": "ENST00000311085.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3048,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11241,
"cdna_start": null,
"cds_end": null,
"cds_length": 9147,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349239.2",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+24delA",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336168.1",
"strand": true,
"transcript": "NM_001349239.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3027,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11078,
"cdna_start": null,
"cds_end": null,
"cds_length": 9084,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349240.2",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+24delA",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336169.1",
"strand": true,
"transcript": "NM_001349240.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3027,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11178,
"cdna_start": null,
"cds_end": null,
"cds_length": 9084,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387933.1",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+24delA",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374862.1",
"strand": true,
"transcript": "NM_001387933.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3027,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11475,
"cdna_start": null,
"cds_end": null,
"cds_length": 9084,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005509.6",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+24delA",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005500.4",
"strand": true,
"transcript": "NM_005509.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2963,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10986,
"cdna_start": null,
"cds_end": null,
"cds_length": 8892,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387934.1",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+24delA",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374863.1",
"strand": true,
"transcript": "NM_001387934.1",
"transcript_support_level": null
},
{
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"aa_length": 2792,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10770,
"cdna_start": null,
"cds_end": null,
"cds_length": 8379,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387937.1",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4265+24delA",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374866.1",
"strand": true,
"transcript": "NM_001387937.1",
"transcript_support_level": null
},
{
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"aa_length": 2719,
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"biotype": "protein_coding",
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"cdna_length": 10551,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387938.1",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.3983+24delA",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374867.1",
"strand": true,
"transcript": "NM_001387938.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939842.1",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4325+7delA",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609901.1",
"strand": true,
"transcript": "ENST00000939842.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "XM_005271909.5",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005271966.1",
"strand": true,
"transcript": "XM_005271909.5",
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},
{
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"protein_id": "XP_011541515.1",
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},
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"consequences": [
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],
"exon_count": 46,
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"feature": "XM_047416834.1",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+24delA",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047272790.1",
"strand": true,
"transcript": "XM_047416834.1",
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},
{
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],
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"feature": "XM_005271910.6",
"gene_hgnc_id": 2937,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005271967.1",
"strand": true,
"transcript": "XM_005271910.6",
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},
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"consequences": [
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],
"exon_count": 44,
"exon_rank": null,
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"feature": "XM_047416835.1",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4970+24delA",
"hgvs_p": null,
"intron_rank": 22,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047272791.1",
"strand": true,
"transcript": "XM_047416835.1",
"transcript_support_level": null
},
{
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"canonical": false,
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"cdna_length": 11776,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 46,
"exon_rank": null,
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"feature": "XM_005271912.3",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4772+24delA",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
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},
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],
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"feature": "XM_017009144.2",
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"strand": true,
"transcript": "XM_017009144.2",
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},
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],
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"feature": "XM_017009145.2",
"gene_hgnc_id": 2937,
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"strand": true,
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},
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"consequences": [
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],
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"exon_rank": null,
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"feature": "XM_017009146.2",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4763+24delA",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016864635.1",
"strand": true,
"transcript": "XM_017009146.2",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416836.1",
"gene_hgnc_id": 2937,
"gene_symbol": "DMXL1",
"hgvs_c": "c.4772+24delA",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272792.1",
"strand": true,
"transcript": "XM_047416836.1",
"transcript_support_level": null
},
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