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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: 16-11158972-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11158972&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11158972,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000409790.6",
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2642-7416C>T",
"hgvs_p": null,
"transcript": "NM_015226.3",
"protein_id": "NP_056041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1053,
"cds_start": -4,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": "ENST00000409790.6",
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2642-7416C>T",
"hgvs_p": null,
"transcript": "ENST00000409790.6",
"protein_id": "ENSP00000387122.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1053,
"cds_start": -4,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": "NM_015226.3",
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2636-7416C>T",
"hgvs_p": null,
"transcript": "NM_001410905.1",
"protein_id": "NP_001397834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1051,
"cds_start": -4,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6806,
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2636-7416C>T",
"hgvs_p": null,
"transcript": "ENST00000703130.1",
"protein_id": "ENSP00000515187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1051,
"cds_start": -4,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6827,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.215-7416C>T",
"hgvs_p": null,
"transcript": "ENST00000261657.5",
"protein_id": "ENSP00000261657.5",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4351,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287121",
"gene_hgnc_id": null,
"hgvs_c": "n.174-3247G>A",
"hgvs_p": null,
"transcript": "ENST00000667071.1",
"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": 601,
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2594-7416C>T",
"hgvs_p": null,
"transcript": "XM_005255211.3",
"protein_id": "XP_005255268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1037,
"cds_start": -4,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6764,
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2588-7416C>T",
"hgvs_p": null,
"transcript": "XM_005255213.3",
"protein_id": "XP_005255270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6758,
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2513-7416C>T",
"hgvs_p": null,
"transcript": "XM_011522434.3",
"protein_id": "XP_011520736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": -4,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6683,
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2507-7416C>T",
"hgvs_p": null,
"transcript": "XM_047433847.1",
"protein_id": "XP_047289803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1008,
"cds_start": -4,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6677,
"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": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2642-19363C>T",
"hgvs_p": null,
"transcript": "XM_005255214.3",
"protein_id": "XP_005255271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2636-19363C>T",
"hgvs_p": null,
"transcript": "XM_047433848.1",
"protein_id": "XP_047289804.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2459-7416C>T",
"hgvs_p": null,
"transcript": "XM_047433850.1",
"protein_id": "XP_047289806.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2594-19363C>T",
"hgvs_p": null,
"transcript": "XM_047433851.1",
"protein_id": "XP_047289807.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 22,
"intron_rank": 21,
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"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2588-19363C>T",
"hgvs_p": null,
"transcript": "XM_047433852.1",
"protein_id": "XP_047289808.1",
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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": 22,
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"gene_symbol": "CLEC16A",
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"hgvs_c": "c.2642-7416C>T",
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"transcript": "XM_047433853.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 21,
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"gene_symbol": "CLEC16A",
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"hgvs_c": "c.2636-7416C>T",
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"transcript": "XM_047433854.1",
"protein_id": "XP_047289810.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.2594-7416C>T",
"hgvs_p": null,
"transcript": "XM_047433855.1",
"protein_id": "XP_047289811.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"intron_rank": 21,
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"gene_symbol": "CLEC16A",
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"transcript": "XM_047433856.1",
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},
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],
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"intron_rank": 11,
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"gene_symbol": "CLEC16A",
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"hgvs_c": "c.1193-7416C>T",
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"transcript": "XM_024450219.2",
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},
{
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"hgvs_c": "c.1127-7416C>T",
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"transcript": "XM_017023090.3",
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"feature": null
}
],
"gene_symbol": "CLEC16A",
"gene_hgnc_id": 29013,
"dbsnp": "rs28087",
"frequency_reference_population": 0.70354116,
"hom_count_reference_population": 38767,
"allele_count_reference_population": 106609,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.703541,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 106609,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 38767,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.026,
"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": -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": "ENST00000409790.6",
"gene_symbol": "CLEC16A",
"hgnc_id": 29013,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2642-7416C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000667071.1",
"gene_symbol": "ENSG00000287121",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.174-3247G>A",
"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
}