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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: 4-123815050-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=123815050&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": "LINC01091",
"hgnc_id": 27721,
"hgvs_c": "n.113-14045C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000515769.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 14152,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000515769.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.113-14045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000515769.1",
"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": 1269,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508111.6",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.492-14045C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000508111.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1347,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000511919.6",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.563-14045C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000511919.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000655892.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.92-14045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000655892.1",
"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": 1372,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000657410.2",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.491-14045C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000657410.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1380,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000660330.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.598-14045C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000660330.1",
"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": 1580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000664622.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.509-14045C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000664622.1",
"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": 1150,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000666490.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.246-14045C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000666490.1",
"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": 981,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000666756.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.287-10944C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000666756.1",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000667041.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.64-14045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000667041.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 857,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000667528.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.80-14045C>T",
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000667528.1",
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},
{
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"biotype": "pseudogene",
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"cdna_end": null,
"cdna_length": 961,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000668255.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.368-14045C>T",
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"transcript": "ENST00000668255.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000668501.1",
"gene_hgnc_id": 27721,
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000669505.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.597-14045C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000669505.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"consequences": [
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],
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"feature": "ENST00000670311.3",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.563-14045C>T",
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},
{
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"consequences": [
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],
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"feature": "ENST00000670449.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.341-14045C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000670449.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000671094.2",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.264-14045C>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000671094.2",
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},
{
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],
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"feature": "ENST00000684936.1",
"gene_hgnc_id": 27721,
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},
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],
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"feature": "ENST00000686783.1",
"gene_hgnc_id": 27721,
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},
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],
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"feature": "ENST00000687307.1",
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"transcript": "ENST00000687307.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000688140.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.569-14045C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000688140.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688429.1",
"gene_hgnc_id": 27721,
"gene_symbol": "LINC01091",
"hgvs_c": "n.560-14045C>T",
"hgvs_p": null,
"intron_rank": 3,
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