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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: 14-68292876-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=68292876&ref=T&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "14",
"pos": 68292876,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000471583.6",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_133510.4",
"protein_id": "NP_598194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": "ENST00000471583.6",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "ENST00000471583.6",
"protein_id": "ENSP00000418859.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": "NM_133510.4",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "ENST00000487861.5",
"protein_id": "ENSP00000419881.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1673,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "ENST00000487270.5",
"protein_id": "ENSP00000419471.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2596,
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "ENST00000488612.5",
"protein_id": "ENSP00000420061.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1550,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "n.*624+896T>C",
"hgvs_p": null,
"transcript": "ENST00000479335.5",
"protein_id": "ENSP00000417408.1",
"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": 1615,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_001321821.2",
"protein_id": "NP_001308750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_133509.5",
"protein_id": "NP_598193.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2679,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_001321812.1",
"protein_id": "NP_001308741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2938,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_001321814.2",
"protein_id": "NP_001308743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3249,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_002877.6",
"protein_id": "NP_002868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1871,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 8,
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"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "ENST00000460526.6",
"protein_id": "ENSP00000518559.1",
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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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"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": 11,
"intron_rank": 8,
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"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_001321819.1",
"protein_id": "NP_001308748.1",
"transcript_support_level": null,
"aa_start": null,
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{
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"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
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"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_001321809.2",
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},
{
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"strand": true,
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],
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"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
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"transcript": "NM_001321810.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 8,
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"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.853+896T>C",
"hgvs_p": null,
"transcript": "NM_001321818.2",
"protein_id": "NP_001308747.1",
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},
{
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"gene_symbol": "RAD51B",
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"hgvs_c": "c.739+896T>C",
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"transcript": "NM_001321815.1",
"protein_id": "NP_001308744.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "c.496+896T>C",
"hgvs_p": null,
"transcript": "NM_001321817.2",
"protein_id": "NP_001308746.1",
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{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "n.646+896T>C",
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"transcript": "ENST00000468382.5",
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},
{
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],
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},
{
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],
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"gene_symbol": "RAD51B",
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"hgvs_c": "n.200+896T>C",
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{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "n.383+896T>C",
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"transcript": "ENST00000492236.5",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RAD51B",
"gene_hgnc_id": 9822,
"hgvs_c": "n.313+896T>C",
"hgvs_p": null,
"transcript": "ENST00000497460.5",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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{
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{
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],
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"gnomad_genomes_af": 0.009961,
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"gnomad_genomes_ac": 1517,
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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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"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.819,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000471583.6",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}