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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: 9-104694956-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=104694956&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 104694956,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001004484.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13D1",
"gene_hgnc_id": 14695,
"hgvs_c": "c.439T>C",
"hgvs_p": "p.Trp147Arg",
"transcript": "NM_001004484.2",
"protein_id": "NP_001004484.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 314,
"cds_start": 439,
"cds_end": null,
"cds_length": 945,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 945,
"mane_select": "ENST00000641530.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004484.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OR13D1",
"gene_hgnc_id": 14695,
"hgvs_c": "c.439T>C",
"hgvs_p": "p.Trp147Arg",
"transcript": "ENST00000641530.1",
"protein_id": "ENSP00000493337.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 314,
"cds_start": 439,
"cds_end": null,
"cds_length": 945,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 945,
"mane_select": "NM_001004484.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641530.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.207+52493A>G",
"hgvs_p": null,
"transcript": "ENST00000745188.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745188.1"
},
{
"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": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.163+52493A>G",
"hgvs_p": null,
"transcript": "ENST00000745189.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745189.1"
},
{
"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": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.185+52493A>G",
"hgvs_p": null,
"transcript": "ENST00000745190.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745190.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.147-448A>G",
"hgvs_p": null,
"transcript": "ENST00000745191.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1135,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745191.1"
},
{
"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": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.108+52493A>G",
"hgvs_p": null,
"transcript": "ENST00000745192.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745192.1"
},
{
"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": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.114-3749A>G",
"hgvs_p": null,
"transcript": "ENST00000745193.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745193.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.66+52493A>G",
"hgvs_p": null,
"transcript": "ENST00000745194.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745194.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.430+52493A>G",
"hgvs_p": null,
"transcript": "ENST00000745195.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745195.1"
},
{
"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": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.74-3749A>G",
"hgvs_p": null,
"transcript": "ENST00000745196.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 715,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745196.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ENSG00000297079",
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"transcript": "ENST00000745197.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000745197.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297079",
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"hgvs_c": "n.59-3749A>G",
"hgvs_p": null,
"transcript": "ENST00000745198.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ENSG00000297079",
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"transcript": "ENST00000745199.1",
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},
{
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],
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"gene_symbol": "ENSG00000297079",
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"hgvs_c": "n.254+53176A>G",
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"transcript": "ENST00000745200.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000745200.1"
},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "ENSG00000297079",
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"hgvs_c": "n.484+49618A>G",
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"transcript": "ENST00000745201.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000297079",
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"hgvs_c": "n.580+52120A>G",
"hgvs_p": null,
"transcript": "ENST00000745202.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000745202.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.197+52493A>G",
"hgvs_p": null,
"transcript": "ENST00000745203.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000745203.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ENSG00000297079",
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},
{
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],
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"intron_rank": 1,
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},
{
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],
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"feature": "ENST00000745206.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "ENSG00000297079",
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"hgvs_c": "n.134+49618A>G",
"hgvs_p": null,
"transcript": "ENST00000745207.1",
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"aa_start": null,
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"cdna_length": 471,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000745207.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297079",
"gene_hgnc_id": null,
"hgvs_c": "n.460-3749A>G",
"hgvs_p": null,
"transcript": "ENST00000745208.1",
"protein_id": null,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"biotype": "pseudogene",
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84057e-7,
"gnomad_genomes_af": 0.00000657082,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.008,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001004484.2",
"gene_symbol": "OR13D1",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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"hgvs_p": "p.Trp147Arg"
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{
"score": 0,
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000745188.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.207+52493A>G",
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},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007061705.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.192-3749A>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}