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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: 9-37436635-CCTCTCTCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37436635&ref=CCTCTCTCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37436635,
"ref": "CCTCTCTCT",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_012203.2",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.866-16_866-9delTCTCTCTC",
"hgvs_p": null,
"transcript": "NM_012203.2",
"protein_id": "NP_036335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": "ENST00000318158.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012203.2"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.866-25_866-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000318158.11",
"protein_id": "ENSP00000313432.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": "NM_012203.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318158.11"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "n.893-25_893-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000460882.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460882.5"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.974-25_974-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000874646.1",
"protein_id": "ENSP00000544705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874646.1"
},
{
"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": 9,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.950-25_950-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000874649.1",
"protein_id": "ENSP00000544708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874649.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.881-25_881-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000874647.1",
"protein_id": "ENSP00000544706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874647.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.863-25_863-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000874642.1",
"protein_id": "ENSP00000544701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874642.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.821-25_821-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000874650.1",
"protein_id": "ENSP00000544709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874650.1"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.809-25_809-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000874645.1",
"protein_id": "ENSP00000544704.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000874645.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.761-25_761-18delCTCTCTCT",
"hgvs_p": null,
"transcript": "ENST00000874641.1",
"protein_id": "ENSP00000544700.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000874641.1"
},
{
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"canonical": false,
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"consequences": [
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],
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"gene_symbol": "GRHPR",
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"hgvs_c": "c.707-25_707-18delCTCTCTCT",
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"transcript": "ENST00000874643.1",
"protein_id": "ENSP00000544702.1",
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},
{
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],
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"gene_symbol": "GRHPR",
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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": true,
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],
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"intron_rank": 3,
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"gene_symbol": "GRHPR",
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"transcript": "ENST00000926739.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "GRHPR",
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},
{
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "GRHPR",
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"hgvs_c": "c.1219-766_1219-759delTCTCTCTC",
"hgvs_p": null,
"transcript": "XM_024447716.2",
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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": true,
"consequences": [
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],
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"gene_symbol": "GRHPR",
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"hgvs_c": "c.625-766_625-759delTCTCTCTC",
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"transcript": "XM_047424084.1",
"protein_id": "XP_047280040.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047424084.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "GRHPR",
"gene_hgnc_id": 4570,
"hgvs_c": "c.545-16_545-9delTCTCTCTC",
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"transcript": "XM_005251631.2",
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{
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],
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],
"gene_symbol": "GRHPR",
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"dbsnp": "rs34302950",
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"hom_count_reference_population": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.455,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012203.2",
"gene_symbol": "GRHPR",
"hgnc_id": 4570,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}