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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: 12-69745893-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69745893&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 69745893,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000247833.12",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.-26+6862T>G",
"hgvs_p": null,
"transcript": "NM_022456.5",
"protein_id": "NP_071901.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9333,
"mane_select": "ENST00000247833.12",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.-26+6862T>G",
"hgvs_p": null,
"transcript": "ENST00000247833.12",
"protein_id": "ENSP00000247833.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": -4,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9333,
"mane_select": "NM_022456.5",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.23+6024T>G",
"hgvs_p": null,
"transcript": "ENST00000550536.5",
"protein_id": "ENSP00000447300.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9646,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.23+6024T>G",
"hgvs_p": null,
"transcript": "ENST00000362025.9",
"protein_id": "ENSP00000355381.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.-26+6862T>G",
"hgvs_p": null,
"transcript": "ENST00000483530.6",
"protein_id": "ENSP00000419216.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "n.-26+6862T>G",
"hgvs_p": null,
"transcript": "ENST00000417413.7",
"protein_id": "ENSP00000436304.2",
"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": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "n.23+6024T>G",
"hgvs_p": null,
"transcript": "ENST00000552199.5",
"protein_id": "ENSP00000448944.1",
"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": 1905,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.23+6024T>G",
"hgvs_p": null,
"transcript": "NM_175623.4",
"protein_id": "NP_783322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9650,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.23+6024T>G",
"hgvs_p": null,
"transcript": "NM_175625.4",
"protein_id": "NP_783324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": -4,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.-26+6862T>G",
"hgvs_p": null,
"transcript": "NM_175624.4",
"protein_id": "NP_783323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": -4,
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"cds_length": 1188,
"cdna_start": null,
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"cdna_length": 9233,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "c.-26+6862T>G",
"hgvs_p": null,
"transcript": "ENST00000378815.10",
"protein_id": "ENSP00000368092.6",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 315,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 3,
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"gene_symbol": "RAB3IP",
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"transcript": "ENST00000549760.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "RAB3IP",
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"hgvs_c": "n.23+6024T>G",
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"transcript": "ENST00000378809.8",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "RAB3IP",
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"hgvs_c": "n.172+6862T>G",
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},
{
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],
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"gene_symbol": "RAB3IP",
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"transcript": "NR_103520.2",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "RAB3IP",
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"hgvs_c": "c.125+7418T>G",
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"transcript": "XM_006719226.4",
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},
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},
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "RAB3IP",
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"hgvs_c": "c.125+7418T>G",
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"transcript": "XM_047428267.1",
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},
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],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "RAB3IP",
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},
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},
{
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"consequences": [
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],
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"gene_symbol": "RAB3IP",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"hgvs_c": "n.215+7418T>G",
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"transcript": "XR_007063039.1",
"protein_id": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "RAB3IP",
"gene_hgnc_id": 16508,
"dbsnp": "rs11177823",
"frequency_reference_population": 0.32248536,
"hom_count_reference_population": 8287,
"allele_count_reference_population": 49021,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.322485,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 49021,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8287,
"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": 0.083,
"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": "ENST00000247833.12",
"gene_symbol": "RAB3IP",
"hgnc_id": 16508,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-26+6862T>G",
"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
}