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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: 4-4646320-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=4646320&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 4646320,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000610009.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.443-2657C>G",
"hgvs_p": null,
"transcript": "ENST00000610009.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.605-2657C>G",
"hgvs_p": null,
"transcript": "ENST00000499430.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.436-2657C>G",
"hgvs_p": null,
"transcript": "ENST00000608184.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.611-83507C>G",
"hgvs_p": null,
"transcript": "ENST00000653097.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.233-2657C>G",
"hgvs_p": null,
"transcript": "ENST00000655855.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.654-2657C>G",
"hgvs_p": null,
"transcript": "ENST00000656969.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.654-59353C>G",
"hgvs_p": null,
"transcript": "ENST00000664283.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.666-2657C>G",
"hgvs_p": null,
"transcript": "ENST00000664571.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.484-37201C>G",
"hgvs_p": null,
"transcript": "ENST00000665126.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.254-2657C>G",
"hgvs_p": null,
"transcript": "ENST00000667824.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 663,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "STX18-AS1",
"gene_hgnc_id": 48877,
"hgvs_c": "n.455-2657C>G",
"hgvs_p": null,
"transcript": "ENST00000670162.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
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],
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "STX18-AS1",
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"hgvs_c": "n.461-2657C>G",
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"transcript": "ENST00000829246.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "STX18-AS1",
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"transcript": "ENST00000829247.1",
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},
{
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],
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},
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "STX18-AS1",
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"hgvs_c": "n.175-2657C>G",
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},
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],
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},
{
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],
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"gene_symbol": "LOC124900165",
"gene_hgnc_id": null,
"hgvs_c": "c.-9777-2657C>G",
"hgvs_p": null,
"transcript": "XM_047416485.1",
"protein_id": "XP_047272441.1",
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "LOC124900165",
"gene_hgnc_id": null,
"hgvs_c": "c.-9774-2657C>G",
"hgvs_p": null,
"transcript": "XM_047416486.1",
"protein_id": "XP_047272442.1",
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],
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],
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],
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"hgvs_c": "c.-9774-2657C>G",
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"transcript": "XM_047416489.1",
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},
{
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"consequences": [
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],
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"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC124900165",
"gene_hgnc_id": null,
"hgvs_c": "c.-9774-2657C>G",
"hgvs_p": null,
"transcript": "XM_047416490.1",
"protein_id": "XP_047272446.1",
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},
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],
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},
{
"aa_ref": null,
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"canonical": false,
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"intron_variant"
],
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}
],
"gene_symbol": "STX18-AS1",
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"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.196,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000610009.5",
"gene_symbol": "STX18-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.443-2657C>G",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047416485.1",
"gene_symbol": "LOC124900165",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-9777-2657C>G",
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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
}