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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: 18-9285826-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=9285826&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 9285826,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_015208.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "NM_015208.5",
"protein_id": "NP_056023.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": null,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11284,
"mane_select": "ENST00000262126.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015208.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "ENST00000262126.9",
"protein_id": "ENSP00000262126.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": null,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11284,
"mane_select": "NM_015208.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262126.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "NM_001083625.3",
"protein_id": "NP_001077094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083625.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "NM_001204056.1",
"protein_id": "NP_001190985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "XM_005258093.5",
"protein_id": "XP_005258150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": null,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258093.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "XM_024451107.2",
"protein_id": "XP_024306875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": null,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451107.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "XM_047437385.1",
"protein_id": "XP_047293341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": null,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "XM_047437386.1",
"protein_id": "XP_047293342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": null,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437386.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "XM_005258095.4",
"protein_id": "XP_005258152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2060,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_005258095.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
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"transcript": "XM_017025661.3",
"protein_id": "XP_016881150.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017025661.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 13,
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"gene_symbol": "ANKRD12",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ANKRD12",
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},
{
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"strand": true,
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],
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"gene_symbol": "ANKRD12",
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},
{
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],
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},
{
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"consequences": [
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],
"exon_rank": 12,
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"intron_rank": null,
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"gene_symbol": "ANKRD12",
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"hgvs_c": "c.*4700T>C",
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"transcript": "XM_047437389.1",
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},
{
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],
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
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"protein_id": "XP_005258153.1",
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},
{
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],
"exon_rank": 12,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"hgvs_c": "c.*4700T>C",
"hgvs_p": null,
"transcript": "XM_017025664.3",
"protein_id": "XP_016881153.1",
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},
{
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],
"exon_rank": 12,
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},
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],
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},
{
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],
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"gene_symbol": "ANKRD12",
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"transcript": "XM_017025669.3",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017025669.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ANKRD12",
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"hgvs_c": "c.*4700T>C",
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}
],
"gene_symbol": "ANKRD12",
"gene_hgnc_id": 29135,
"dbsnp": "rs1114591",
"frequency_reference_population": 0.2094312,
"hom_count_reference_population": 4114,
"allele_count_reference_population": 31857,
"gnomad_exomes_af": 0.125,
"gnomad_genomes_af": 0.209436,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 31856,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 4114,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.301,
"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": "NM_015208.5",
"gene_symbol": "ANKRD12",
"hgnc_id": 29135,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*4700T>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
}