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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: 2-241817616-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241817616&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241817616,
"ref": "T",
"alt": "C",
"effect": "downstream_gene_variant",
"transcript": "NM_001167599.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "NM_001167600.3",
"protein_id": "NP_001161072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": "ENST00000407683.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167600.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000407683.6",
"protein_id": "ENSP00000385402.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": "NM_001167600.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407683.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000325935.10",
"protein_id": "ENSP00000320318.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325935.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000404257.5",
"protein_id": "ENSP00000385149.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404257.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000405370.5",
"protein_id": "ENSP00000384804.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405370.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000859318.1",
"protein_id": "ENSP00000529377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": null,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859318.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "NM_001167599.3",
"protein_id": "NP_001161071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167599.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "NM_080741.4",
"protein_id": "NP_542779.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080741.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "NM_001167601.3",
"protein_id": "NP_001161073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
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"cds_length": 1455,
"cdna_start": null,
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"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167601.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEU4",
"gene_hgnc_id": 21328,
"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "NM_001167602.3",
"protein_id": "NP_001161074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167602.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "NEU4",
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"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000391969.6",
"protein_id": "ENSP00000375830.2",
"transcript_support_level": 2,
"aa_start": null,
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"feature": "ENST00000391969.6"
},
{
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],
"exon_rank": null,
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"transcript": "ENST00000859313.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "NEU4",
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},
{
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],
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"gene_symbol": "NEU4",
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},
{
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"downstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "NEU4",
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"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000859319.1",
"protein_id": "ENSP00000529378.1",
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},
{
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],
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"gene_symbol": "NEU4",
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},
{
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],
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"gene_symbol": "NEU4",
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"hgvs_c": "c.*568T>C",
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},
{
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "NEU4",
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"hgvs_c": "c.*568T>C",
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"transcript": "ENST00000859322.1",
"protein_id": "ENSP00000529381.1",
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},
{
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],
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"hgvs_c": "c.*568T>C",
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},
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],
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},
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],
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"feature": "ENST00000859315.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "NEU4",
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"hgvs_c": "c.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000859316.1",
"protein_id": "ENSP00000529375.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000859316.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
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"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.005,
"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "NM_001167599.3",
"gene_symbol": "NEU4",
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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,
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"custom_annotations": null
}
],
"message": null
}