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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: 3-71704835-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=71704835&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 71704835,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000425534.8",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.250-5127C>T",
"hgvs_p": null,
"transcript": "NM_001134651.2",
"protein_id": "NP_001128123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9978,
"mane_select": "ENST00000425534.8",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.250-5127C>T",
"hgvs_p": null,
"transcript": "ENST00000425534.8",
"protein_id": "ENSP00000393324.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9978,
"mane_select": "NM_001134651.2",
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285708",
"gene_hgnc_id": null,
"hgvs_c": "c.-737-5127C>T",
"hgvs_p": null,
"transcript": "ENST00000647725.1",
"protein_id": "ENSP00000497585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3028,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
"hgvs_p": null,
"transcript": "ENST00000295612.7",
"protein_id": "ENSP00000295612.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2764,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
"hgvs_p": null,
"transcript": "ENST00000421769.6",
"protein_id": "ENSP00000411762.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 777,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
"hgvs_p": null,
"transcript": "NM_001134649.3",
"protein_id": "NP_001128121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10199,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
"hgvs_p": null,
"transcript": "NM_001134650.1",
"protein_id": "NP_001128122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 6085,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
"hgvs_p": null,
"transcript": "NM_001282886.2",
"protein_id": "NP_001269815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10044,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
"hgvs_p": null,
"transcript": "NM_173359.5",
"protein_id": "NP_775495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
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"cdna_length": 10045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
"hgvs_p": null,
"transcript": "ENST00000389826.7",
"protein_id": "ENSP00000374476.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
"hgvs_p": null,
"transcript": "ENST00000448225.5",
"protein_id": "ENSP00000410350.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "EIF4E3",
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"hgvs_c": "c.-69-5127C>T",
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"transcript": "ENST00000497838.5",
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "EIF4E3",
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"hgvs_c": "c.-69-5127C>T",
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"transcript": "ENST00000496214.6",
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},
{
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],
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"gene_symbol": "EIF4E3",
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"hgvs_c": "c.-69-5127C>T",
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"transcript": "ENST00000469524.1",
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},
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],
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},
{
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],
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"gene_symbol": "EIF4E3",
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"hgvs_c": "n.249-5127C>T",
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},
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],
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"gene_symbol": "ENSG00000285708",
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"hgvs_c": "n.249+5577C>T",
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"transcript": "ENST00000650530.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "EIF4E3",
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"hgvs_c": "c.250-5127C>T",
"hgvs_p": null,
"transcript": "XM_047448060.1",
"protein_id": "XP_047304016.1",
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},
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],
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "EIF4E3",
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"hgvs_c": "c.-69-5127C>T",
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"transcript": "XM_047448063.1",
"protein_id": "XP_047304019.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4E3",
"gene_hgnc_id": 31837,
"hgvs_c": "c.-69-5127C>T",
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"transcript": "XM_047448064.1",
"protein_id": "XP_047304020.1",
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}
],
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"gnomad_genomes_ac": 108356,
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"gnomad_genomes_homalt": 39079,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"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,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.246,
"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": "ENST00000425534.8",
"gene_symbol": "EIF4E3",
"hgnc_id": 31837,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.250-5127C>T",
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},
{
"score": -12,
"benign_score": 12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000647725.1",
"gene_symbol": "ENSG00000285708",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-737-5127C>T",
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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
}