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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: 3-130968073-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=130968073&ref=C&alt=T&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": "ATP2C1",
"hgnc_id": 13211,
"hgvs_c": "c.1410+654C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001378511.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 68223,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 919,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": null,
"cds_end": null,
"cds_length": 2760,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378687.1",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000510168.6",
"protein_coding": true,
"protein_id": "NP_001365616.1",
"strand": true,
"transcript": "NM_001378687.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 919,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4994,
"cdna_start": null,
"cds_end": null,
"cds_length": 2760,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510168.6",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378687.1",
"protein_coding": true,
"protein_id": "ENSP00000427461.1",
"strand": true,
"transcript": "ENST00000510168.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 949,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": null,
"cds_end": null,
"cds_length": 2850,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359644.7",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352665.3",
"strand": true,
"transcript": "ENST00000359644.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 939,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": null,
"cds_end": null,
"cds_length": 2820,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422190.6",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402677.2",
"strand": true,
"transcript": "ENST00000422190.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 923,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": null,
"cds_end": null,
"cds_length": 2772,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513801.5",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1260+654C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422872.1",
"strand": true,
"transcript": "ENST00000513801.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 919,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": null,
"cds_end": null,
"cds_length": 2760,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428331.6",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395809.2",
"strand": true,
"transcript": "ENST00000428331.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 919,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4969,
"cdna_start": null,
"cds_end": null,
"cds_length": 2760,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508532.5",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424783.1",
"strand": true,
"transcript": "ENST00000508532.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 903,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": null,
"cds_end": null,
"cds_length": 2712,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000504948.5",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1260+654C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423330.1",
"strand": true,
"transcript": "ENST00000504948.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 888,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000328560.12",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329664.8",
"strand": true,
"transcript": "ENST00000328560.12",
"transcript_support_level": 1
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2667,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
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"feature": "ENST00000533801.6",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
"hgvs_p": null,
"intron_rank": 16,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000432956.3",
"strand": true,
"transcript": "ENST00000533801.6",
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},
{
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"biotype": "retained_intron",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000514654.5",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "n.1478+654C>T",
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"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000514654.5",
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},
{
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],
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"feature": "NM_001378511.1",
"gene_hgnc_id": 13211,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365440.1",
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},
{
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"feature": "NM_001199180.2",
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"protein_coding": true,
"protein_id": "NP_001186109.1",
"strand": true,
"transcript": "NM_001199180.2",
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},
{
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"consequences": [
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],
"exon_count": 28,
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"feature": "ENST00000507488.6",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1410+654C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000421326.3",
"strand": true,
"transcript": "ENST00000507488.6",
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},
{
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],
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"feature": "NM_001199181.3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001186110.1",
"strand": true,
"transcript": "NM_001199181.3",
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},
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000505330.5",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1410+654C>T",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000423774.2",
"strand": true,
"transcript": "ENST00000505330.5",
"transcript_support_level": 2
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 29,
"exon_rank": null,
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"feature": "NM_001001486.2",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1308+654C>T",
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"protein_coding": true,
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"strand": true,
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},
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],
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"feature": "NM_001378512.1",
"gene_hgnc_id": 13211,
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"strand": true,
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},
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],
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"feature": "NM_001199182.2",
"gene_hgnc_id": 13211,
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"hgvs_c": "c.1293+654C>T",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "NM_001199182.2",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000504381.5",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1293+654C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000425320.2",
"strand": true,
"transcript": "ENST00000504381.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
"cds_length": 2823,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950719.1",
"gene_hgnc_id": 13211,
"gene_symbol": "ATP2C1",
"hgvs_c": "c.1371+654C>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620778.1",
"strand": true,
"transcript": "ENST00000950719.1",
"transcript_support_level": null
},
{
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