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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: 8-116854479-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=116854479&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 116854479,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_006265.3",
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "NM_006265.3",
"protein_id": "NP_006256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297338.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006265.3"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000297338.7",
"protein_id": "ENSP00000297338.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006265.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297338.7"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000517749.2",
"protein_id": "ENSP00000430273.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517749.2"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000517485.6",
"protein_id": "ENSP00000427923.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517485.6"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000519837.6",
"protein_id": "ENSP00000430524.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519837.6"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000520992.6",
"protein_id": "ENSP00000429342.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520992.6"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000522699.2",
"protein_id": "ENSP00000428158.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522699.2"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000687358.1",
"protein_id": "ENSP00000509687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687358.1"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000900009.1",
"protein_id": "ENSP00000570068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900009.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000900010.1",
"protein_id": "ENSP00000570069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": null,
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"cds_length": 1896,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900010.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 8,
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"gene_symbol": "RAD21",
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"hgvs_c": "c.938-11T>C",
"hgvs_p": null,
"transcript": "ENST00000927340.1",
"protein_id": "ENSP00000597399.1",
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"aa_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000927340.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RAD21",
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"transcript": "ENST00000958519.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RAD21",
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"transcript": "ENST00000927337.1",
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},
{
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],
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"gene_symbol": "RAD21",
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},
{
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],
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"gene_symbol": "RAD21",
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"hgvs_c": "c.938-11T>C",
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"transcript": "ENST00000958517.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "RAD21",
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"transcript": "ENST00000900011.1",
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},
{
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],
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"intron_rank": 8,
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"gene_symbol": "RAD21",
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"hgvs_c": "c.839-11T>C",
"hgvs_p": null,
"transcript": "ENST00000927341.1",
"protein_id": "ENSP00000597400.1",
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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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"transcript": "ENST00000958516.1",
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"biotype": "protein_coding",
"feature": "ENST00000958516.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD21",
"gene_hgnc_id": 9811,
"hgvs_c": "n.1048-11T>C",
"hgvs_p": null,
"transcript": "ENST00000523547.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000523547.2"
},
{
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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": 2,
"intron_rank_end": null,
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"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.712,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006265.3",
"gene_symbol": "RAD21",
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"effects": [
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],
"inheritance_mode": "AD,Unknown",
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],
"clinvar_disease": "Cornelia de Lange syndrome 4,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|Cornelia de Lange syndrome 4|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}