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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: 8-28776168-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=28776168&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 28776168,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000521022.6",
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1396-242G>C",
"hgvs_p": null,
"transcript": "NM_018250.4",
"protein_id": "NP_060720.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": "ENST00000521022.6",
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1396-242G>C",
"hgvs_p": null,
"transcript": "ENST00000521022.6",
"protein_id": "ENSP00000429065.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": -4,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": "NM_018250.4",
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "n.1396-242G>C",
"hgvs_p": null,
"transcript": "ENST00000523303.5",
"protein_id": "ENSP00000427952.1",
"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": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "n.36G>C",
"hgvs_p": null,
"transcript": "ENST00000519578.1",
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "n.104G>C",
"hgvs_p": null,
"transcript": "ENST00000520005.1",
"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": 588,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1396-242G>C",
"hgvs_p": null,
"transcript": "NM_001363038.2",
"protein_id": "NP_001349967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": -4,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2603,
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1333-242G>C",
"hgvs_p": null,
"transcript": "NM_001145159.3",
"protein_id": "NP_001138631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2486,
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1333-242G>C",
"hgvs_p": null,
"transcript": "ENST00000416984.6",
"protein_id": "ENSP00000398208.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2759,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1324-242G>C",
"hgvs_p": null,
"transcript": "NM_001172562.2",
"protein_id": "NP_001166033.1",
"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": 2581,
"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": 13,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1324-242G>C",
"hgvs_p": null,
"transcript": "ENST00000521777.5",
"protein_id": "ENSP00000430943.1",
"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": 2430,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "n.*1088-242G>C",
"hgvs_p": null,
"transcript": "ENST00000522363.5",
"protein_id": "ENSP00000430083.1",
"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,
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"cdna_length": 2045,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "n.1292-242G>C",
"hgvs_p": null,
"transcript": "NR_026826.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1333-242G>C",
"hgvs_p": null,
"transcript": "XM_011544573.2",
"protein_id": "XP_011542875.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 655,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1324-242G>C",
"hgvs_p": null,
"transcript": "XM_011544574.1",
"protein_id": "XP_011542876.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 14,
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"gene_symbol": "INTS9",
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"hgvs_c": "c.1324-242G>C",
"hgvs_p": null,
"transcript": "XM_011544575.3",
"protein_id": "XP_011542877.1",
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"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1396-242G>C",
"hgvs_p": null,
"transcript": "XM_006716357.5",
"protein_id": "XP_006716420.1",
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},
{
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],
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"intron_rank": 12,
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"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1261-242G>C",
"hgvs_p": null,
"transcript": "XM_011544576.3",
"protein_id": "XP_011542878.1",
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"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1333-242G>C",
"hgvs_p": null,
"transcript": "XM_047421954.1",
"protein_id": "XP_047277910.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 12,
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"gene_symbol": "INTS9",
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"hgvs_c": "c.1261-242G>C",
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"transcript": "XM_047421955.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 11,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "INTS9",
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"hgvs_c": "c.1261-242G>C",
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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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "c.1198-242G>C",
"hgvs_p": null,
"transcript": "XM_047421958.1",
"protein_id": "XP_047277914.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS9",
"gene_hgnc_id": 25592,
"hgvs_c": "n.-243G>C",
"hgvs_p": null,
"transcript": "ENST00000520316.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "INTS9",
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"dbsnp": "rs241202",
"frequency_reference_population": 0.50135386,
"hom_count_reference_population": 53417,
"allele_count_reference_population": 207010,
"gnomad_exomes_af": 0.500127,
"gnomad_genomes_af": 0.503459,
"gnomad_exomes_ac": 130459,
"gnomad_genomes_ac": 76551,
"gnomad_exomes_homalt": 33785,
"gnomad_genomes_homalt": 19632,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.03,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.297,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000521022.6",
"gene_symbol": "INTS9",
"hgnc_id": 25592,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1396-242G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}