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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: 6-32182519-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32182519&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32182519,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000375076.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.822+49G>T",
"hgvs_p": null,
"transcript": "NM_001136.5",
"protein_id": "NP_001127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": -4,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": "ENST00000375076.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.822+49G>T",
"hgvs_p": null,
"transcript": "ENST00000375076.9",
"protein_id": "ENSP00000364217.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": -4,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": "NM_001136.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.870+49G>T",
"hgvs_p": null,
"transcript": "ENST00000375069.7",
"protein_id": "ENSP00000364210.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.870+49G>T",
"hgvs_p": null,
"transcript": "ENST00000438221.6",
"protein_id": "ENSP00000387887.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.822+49G>T",
"hgvs_p": null,
"transcript": "ENST00000375055.6",
"protein_id": "ENSP00000364195.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.809+20G>T",
"hgvs_p": null,
"transcript": "ENST00000375067.7",
"protein_id": "ENSP00000364208.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.364+49G>T",
"hgvs_p": null,
"transcript": "ENST00000473619.5",
"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": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.1029+49G>T",
"hgvs_p": null,
"transcript": "ENST00000484849.5",
"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": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "n.364+49G>T",
"hgvs_p": null,
"transcript": "ENST00000488669.5",
"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": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.870+49G>T",
"hgvs_p": null,
"transcript": "NM_001206929.2",
"protein_id": "NP_001193858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.780+49G>T",
"hgvs_p": null,
"transcript": "NM_001206932.2",
"protein_id": "NP_001193861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
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"cdna_length": 1378,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.870+49G>T",
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"transcript": "NM_001206934.2",
"protein_id": "NP_001193863.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
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"gene_symbol": "AGER",
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"hgvs_c": "c.822+49G>T",
"hgvs_p": null,
"transcript": "NM_001206936.2",
"protein_id": "NP_001193865.1",
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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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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
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"gene_symbol": "AGER",
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"hgvs_c": "c.822+49G>T",
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"transcript": "NM_001206940.2",
"protein_id": "NP_001193869.1",
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},
{
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"strand": false,
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"intron_variant"
],
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"gene_symbol": "AGER",
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"hgvs_c": "c.822+49G>T",
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"protein_id": "NP_001193895.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
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"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.809+20G>T",
"hgvs_p": null,
"transcript": "NM_172197.3",
"protein_id": "NP_751947.1",
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},
{
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],
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
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"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"hgvs_c": "c.519+49G>T",
"hgvs_p": null,
"transcript": "ENST00000375070.7",
"protein_id": "ENSP00000364211.4",
"transcript_support_level": 5,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 6,
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"gene_symbol": "AGER",
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"hgvs_c": "n.1036+49G>T",
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"transcript": "NR_038190.2",
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},
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],
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},
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],
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"exon_count": 9,
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"gene_symbol": "AGER",
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"hgvs_c": "c.870+49G>T",
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},
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"intron_variant"
],
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"intron_rank_end": null,
"gene_symbol": "AGER",
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"hgvs_c": "c.822+49G>T",
"hgvs_p": null,
"transcript": "XM_047418261.1",
"protein_id": "XP_047274217.1",
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGER",
"gene_hgnc_id": 320,
"dbsnp": "rs184003",
"frequency_reference_population": 0.094612,
"hom_count_reference_population": 10864,
"allele_count_reference_population": 151562,
"gnomad_exomes_af": 0.0914867,
"gnomad_genomes_af": 0.124382,
"gnomad_exomes_ac": 132632,
"gnomad_genomes_ac": 18930,
"gnomad_exomes_homalt": 9285,
"gnomad_genomes_homalt": 1579,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.113,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000375076.9",
"gene_symbol": "AGER",
"hgnc_id": 320,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.822+49G>T",
"hgvs_p": null
}
],
"clinvar_disease": " severe early onset,COPD",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "COPD, severe early onset",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}