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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: 21-45421483-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45421483&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "COL18A1",
"hgnc_id": 2195,
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001379500.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "COL18A1-AS1",
"hgnc_id": 23132,
"hgvs_c": "n.1658C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000397787.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 70794,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": null,
"cds_end": null,
"cds_length": 4020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379500.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651438.1",
"protein_coding": true,
"protein_id": "NP_001366429.1",
"strand": true,
"transcript": "NM_001379500.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": null,
"cds_end": null,
"cds_length": 4020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651438.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001379500.1",
"protein_coding": true,
"protein_id": "ENSP00000498485.1",
"strand": true,
"transcript": "ENST00000651438.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000397787.5",
"gene_hgnc_id": 23132,
"gene_symbol": "COL18A1-AS1",
"hgvs_c": "n.1658C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000397787.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000485206.1",
"gene_hgnc_id": 23132,
"gene_symbol": "COL18A1-AS1",
"hgvs_c": "n.574C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000485206.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": null,
"cds_end": null,
"cds_length": 4452,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859062.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529121.1",
"strand": true,
"transcript": "ENST00000859062.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": null,
"cds_end": null,
"cds_length": 4266,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930602.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600661.1",
"strand": true,
"transcript": "ENST00000930602.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": null,
"cds_end": null,
"cds_length": 4089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859069.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529128.1",
"strand": true,
"transcript": "ENST00000859069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1359,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": null,
"cds_end": null,
"cds_length": 4080,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859068.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529127.1",
"strand": true,
"transcript": "ENST00000859068.1",
"transcript_support_level": null
},
{
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"aa_length": 1357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": null,
"cds_end": null,
"cds_length": 4074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859063.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529122.1",
"strand": true,
"transcript": "ENST00000859063.1",
"transcript_support_level": null
},
{
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"aa_length": 1350,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5475,
"cdna_start": null,
"cds_end": null,
"cds_length": 4053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859060.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529119.1",
"strand": true,
"transcript": "ENST00000859060.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5393,
"cdna_start": null,
"cds_end": null,
"cds_length": 4011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970099.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640158.1",
"strand": true,
"transcript": "ENST00000970099.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3996,
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"consequences": [
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],
"exon_count": 41,
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"feature": "ENST00000859066.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529125.1",
"strand": true,
"transcript": "ENST00000859066.1",
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},
{
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"consequences": [
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],
"exon_count": 41,
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"feature": "ENST00000930597.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600656.1",
"strand": true,
"transcript": "ENST00000930597.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
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"feature": "ENST00000970097.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640156.1",
"strand": true,
"transcript": "ENST00000970097.1",
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},
{
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"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
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"feature": "ENST00000859067.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529126.1",
"strand": true,
"transcript": "ENST00000859067.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
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"feature": "ENST00000859059.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529118.1",
"strand": true,
"transcript": "ENST00000859059.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 41,
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"feature": "ENST00000930601.1",
"gene_hgnc_id": 2195,
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"hgvs_c": "c.106+16010G>A",
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"protein_id": "ENSP00000600660.1",
"strand": true,
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},
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"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
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"feature": "ENST00000930595.1",
"gene_hgnc_id": 2195,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000600654.1",
"strand": true,
"transcript": "ENST00000930595.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000859064.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
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"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529123.1",
"strand": true,
"transcript": "ENST00000859064.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3894,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970098.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.106+16010G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640157.1",
"strand": true,
"transcript": "ENST00000970098.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5289,
"cdna_start": null,
"cds_end": null,
"cds_length": 3882,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930596.1",
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