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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: 7-124825455-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=124825455&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 124825455,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000357628.8",
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1687-98T>G",
"hgvs_p": null,
"transcript": "NM_015450.3",
"protein_id": "NP_056265.2",
"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": 3924,
"mane_select": "ENST00000357628.8",
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1687-98T>G",
"hgvs_p": null,
"transcript": "ENST00000357628.8",
"protein_id": "ENSP00000350249.3",
"transcript_support_level": 2,
"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": 3924,
"mane_select": "NM_015450.3",
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*41-98T>G",
"hgvs_p": null,
"transcript": "ENST00000607932.5",
"protein_id": "ENSP00000476506.1",
"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": 1827,
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.*784-98T>G",
"hgvs_p": null,
"transcript": "ENST00000608057.5",
"protein_id": "ENSP00000476371.1",
"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": 2036,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1687-98T>G",
"hgvs_p": null,
"transcript": "ENST00000653241.1",
"protein_id": "ENSP00000499476.1",
"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": 3145,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1687-98T>G",
"hgvs_p": null,
"transcript": "ENST00000655761.1",
"protein_id": "ENSP00000499635.1",
"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": 3044,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1687-98T>G",
"hgvs_p": null,
"transcript": "ENST00000664366.1",
"protein_id": "ENSP00000499290.1",
"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": 3091,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1687-98T>G",
"hgvs_p": null,
"transcript": "ENST00000668382.1",
"protein_id": "ENSP00000499546.1",
"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": 2877,
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1462-98T>G",
"hgvs_p": null,
"transcript": "ENST00000654766.1",
"protein_id": "ENSP00000499395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": -4,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2476,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1294-98T>G",
"hgvs_p": null,
"transcript": "NM_001042594.2",
"protein_id": "NP_001036059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
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"cds_length": 1512,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "c.1294-98T>G",
"hgvs_p": null,
"transcript": "ENST00000393329.5",
"protein_id": "ENSP00000377002.1",
"transcript_support_level": 5,
"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,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 16,
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"gene_symbol": "POT1",
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"hgvs_c": "n.*41-98T>G",
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"transcript": "ENST00000430927.6",
"protein_id": "ENSP00000397632.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "POT1",
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"hgvs_c": "n.182-98T>G",
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"transcript": "ENST00000436534.5",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "POT1",
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"hgvs_c": "n.1700-98T>G",
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"transcript": "ENST00000609106.5",
"protein_id": "ENSP00000476981.1",
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},
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],
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"protein_id": "ENSP00000499382.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "POT1",
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"hgvs_c": "n.*1418-98T>G",
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"transcript": "ENST00000653819.1",
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},
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],
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"gene_symbol": "POT1",
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"hgvs_c": "n.*1329-98T>G",
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"transcript": "ENST00000653892.1",
"protein_id": "ENSP00000499506.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 15,
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"gene_symbol": "POT1",
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"hgvs_c": "n.*1286-98T>G",
"hgvs_p": null,
"transcript": "ENST00000657333.1",
"protein_id": "ENSP00000499425.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "POT1",
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"hgvs_c": "n.*1556-98T>G",
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"transcript": "ENST00000657892.1",
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},
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 17,
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"gene_symbol": "POT1",
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"hgvs_c": "n.*1538-98T>G",
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"transcript": "ENST00000664330.1",
"protein_id": "ENSP00000499781.1",
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"biotype": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.2250-98T>G",
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"transcript": "NR_003102.2",
"protein_id": null,
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},
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.2041-98T>G",
"hgvs_p": null,
"transcript": "NR_003103.2",
"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": 3835,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"hgvs_c": "n.2227-98T>G",
"hgvs_p": null,
"transcript": "NR_003104.2",
"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": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POT1",
"gene_hgnc_id": 17284,
"dbsnp": "rs10250202",
"frequency_reference_population": 0.40342677,
"hom_count_reference_population": 57063,
"allele_count_reference_population": 280075,
"gnomad_exomes_af": 0.404698,
"gnomad_genomes_af": 0.398889,
"gnomad_exomes_ac": 219467,
"gnomad_genomes_ac": 60608,
"gnomad_exomes_homalt": 44839,
"gnomad_genomes_homalt": 12224,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.003,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357628.8",
"gene_symbol": "POT1",
"hgnc_id": 17284,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1687-98T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}