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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: 19-19418660-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19418660&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19418660,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000683918.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-7+12641G>A",
"hgvs_p": null,
"transcript": "NM_001384528.1",
"protein_id": "NP_001371457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": "ENST00000683918.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-7+12641G>A",
"hgvs_p": null,
"transcript": "ENST00000683918.1",
"protein_id": "ENSP00000508398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5714,
"mane_select": "NM_001384528.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-9035G>A",
"hgvs_p": null,
"transcript": "XM_047438999.1",
"protein_id": "XP_047294955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": -4,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-9231G>A",
"hgvs_p": null,
"transcript": "XM_047439003.1",
"protein_id": "XP_047294959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-9008G>A",
"hgvs_p": null,
"transcript": "XM_047439005.1",
"protein_id": "XP_047294961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-9003G>A",
"hgvs_p": null,
"transcript": "XM_047439007.1",
"protein_id": "XP_047294963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 18164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-7+32522G>A",
"hgvs_p": null,
"transcript": "NM_001384537.1",
"protein_id": "NP_001371466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-95-17471G>A",
"hgvs_p": null,
"transcript": "NM_001300946.3",
"protein_id": "NP_001287875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-90-17471G>A",
"hgvs_p": null,
"transcript": "NM_001384511.1",
"protein_id": "NP_001371440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-392-9036G>A",
"hgvs_p": null,
"transcript": "NM_001384512.1",
"protein_id": "NP_001371441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-7+32522G>A",
"hgvs_p": null,
"transcript": "NM_001384513.1",
"protein_id": "NP_001371442.1",
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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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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-615-9036G>A",
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"transcript": "NM_001384514.1",
"protein_id": "NP_001371443.1",
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"aa_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-315+32522G>A",
"hgvs_p": null,
"transcript": "NM_001384515.1",
"protein_id": "NP_001371444.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-177-17471G>A",
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"transcript": "NM_001384516.1",
"protein_id": "NP_001371445.1",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-303-9036G>A",
"hgvs_p": null,
"transcript": "NM_001384517.1",
"protein_id": "NP_001371446.1",
"transcript_support_level": null,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-230+32522G>A",
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"transcript": "NM_001384518.1",
"protein_id": "NP_001371447.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "GATAD2A",
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"hgvs_c": "c.-2+32522G>A",
"hgvs_p": null,
"transcript": "NM_001384519.1",
"protein_id": "NP_001371448.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-403-17471G>A",
"hgvs_p": null,
"transcript": "NM_001384521.1",
"protein_id": "NP_001371450.1",
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-313-17471G>A",
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"transcript": "NM_001384522.1",
"protein_id": "NP_001371451.1",
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},
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],
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"gene_symbol": "GATAD2A",
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"hgvs_c": "c.-387-9036G>A",
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"transcript": "NM_001384523.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "GATAD2A",
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"transcript": "NM_001384524.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-96+12641G>A",
"hgvs_p": null,
"transcript": "NM_001384525.1",
"protein_id": "NP_001371454.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GATAD2A",
"gene_hgnc_id": 29989,
"hgvs_c": "c.-387-9036G>A",
"hgvs_p": null,
"transcript": "NM_001384526.1",
"protein_id": "NP_001371455.1",
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{
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],
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"gnomad_genomes_af": 0.03498,
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"gnomad_genomes_ac": 5325,
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"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.275,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000683918.1",
"gene_symbol": "GATAD2A",
"hgnc_id": 29989,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-7+12641G>A",
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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
}