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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: 10-810978-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=810978&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 810978,
"ref": "A",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000316157.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
"hgvs_p": null,
"transcript": "NM_015155.3",
"protein_id": "NP_055970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": "ENST00000316157.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
"hgvs_p": null,
"transcript": "ENST00000316157.8",
"protein_id": "ENSP00000326128.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": "NM_015155.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.4453T>A",
"hgvs_p": null,
"transcript": "ENST00000688042.1",
"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": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.*3537T>A",
"hgvs_p": null,
"transcript": "ENST00000690516.1",
"protein_id": "ENSP00000508832.1",
"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": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
"hgvs_p": null,
"transcript": "ENST00000689323.1",
"protein_id": "ENSP00000510165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1735,
"cds_start": -4,
"cds_end": null,
"cds_length": 5208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
"hgvs_p": null,
"transcript": "NM_001351277.2",
"protein_id": "NP_001338206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": -4,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "n.*3537T>A",
"hgvs_p": null,
"transcript": "ENST00000690516.1",
"protein_id": "ENSP00000508832.1",
"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": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
"hgvs_p": null,
"transcript": "XM_017015987.2",
"protein_id": "XP_016871476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1273,
"cds_start": -4,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
"hgvs_p": null,
"transcript": "XM_017015988.2",
"protein_id": "XP_016871477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1238,
"cds_start": -4,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*2189T>A",
"hgvs_p": null,
"transcript": "XM_017015989.2",
"protein_id": "XP_016871478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1172,
"cds_start": -4,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
"hgvs_p": null,
"transcript": "XM_017015990.2",
"protein_id": "XP_016871479.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 773,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
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"transcript": "XM_047424892.1",
"protein_id": "XP_047280848.1",
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
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"transcript": "XM_047424893.1",
"protein_id": "XP_047280849.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 20,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
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"transcript": "XM_047424894.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
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"intron_rank": null,
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"gene_symbol": "LARP4B",
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"hgvs_c": "c.*1948T>A",
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"transcript": "XM_047424895.1",
"protein_id": "XP_047280851.1",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
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"transcript": "XM_047424896.1",
"protein_id": "XP_047280852.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "LARP4B",
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"hgvs_c": "c.*1948T>A",
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"transcript": "XM_047424897.1",
"protein_id": "XP_047280853.1",
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},
{
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"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*2189T>A",
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"transcript": "XM_047424898.1",
"protein_id": "XP_047280854.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "LARP4B",
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"hgvs_c": "c.*2189T>A",
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"transcript": "XM_047424899.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "LARP4B",
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"transcript": "XM_047424901.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "LARP4B",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*1948T>A",
"hgvs_p": null,
"transcript": "XM_047424902.1",
"protein_id": "XP_047280858.1",
"transcript_support_level": null,
"aa_start": null,
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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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"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "LARP4B",
"gene_hgnc_id": 28987,
"hgvs_c": "c.*5+1943T>A",
"hgvs_p": null,
"transcript": "ENST00000688365.1",
"protein_id": "ENSP00000509705.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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],
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"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.88,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
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"benign_score": 12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000316157.8",
"gene_symbol": "LARP4B",
"hgnc_id": 28987,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1948T>A",
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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
}