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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: 7-8137767-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=8137767&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 8137767,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000402384.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1060+1073G>T",
"hgvs_p": null,
"transcript": "NM_001136020.3",
"protein_id": "NP_001129492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": "ENST00000402384.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1060+1073G>T",
"hgvs_p": null,
"transcript": "ENST00000402384.8",
"protein_id": "ENSP00000385570.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": "NM_001136020.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1147+1073G>T",
"hgvs_p": null,
"transcript": "ENST00000422063.6",
"protein_id": "ENSP00000403982.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": -4,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1060+1073G>T",
"hgvs_p": null,
"transcript": "ENST00000396675.7",
"protein_id": "ENSP00000379908.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1060+1073G>T",
"hgvs_p": null,
"transcript": "ENST00000406470.6",
"protein_id": "ENSP00000385651.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "n.706-9625G>T",
"hgvs_p": null,
"transcript": "ENST00000339809.10",
"protein_id": "ENSP00000341603.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "n.*1010+1073G>T",
"hgvs_p": null,
"transcript": "ENST00000455539.5",
"protein_id": "ENSP00000410341.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1147+1073G>T",
"hgvs_p": null,
"transcript": "NM_001350826.2",
"protein_id": "NP_001337755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": -4,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1147+1073G>T",
"hgvs_p": null,
"transcript": "NM_001350827.2",
"protein_id": "NP_001337756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": -4,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1144+1073G>T",
"hgvs_p": null,
"transcript": "NM_001350828.2",
"protein_id": "NP_001337757.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
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"gene_symbol": "ICA1",
"gene_hgnc_id": 5343,
"hgvs_c": "c.1144+1073G>T",
"hgvs_p": null,
"transcript": "NM_001350829.2",
"protein_id": "NP_001337758.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "ICA1",
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"hgvs_c": "c.1060+1073G>T",
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],
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"gene_symbol": "ICA1",
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],
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},
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],
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"gene_symbol": "ICA1",
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},
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],
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"transcript": "NM_001350821.2",
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],
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"hgvs_c": "c.1057+1073G>T",
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"transcript": "ENST00000265577.11",
"protein_id": "ENSP00000265577.7",
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},
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],
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"gene_symbol": "ICA1",
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"hgvs_c": "c.1024+1073G>T",
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{
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],
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"gnomad_genomes_ac": 7920,
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"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.85,
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"phylop100way_prediction": "Benign",
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{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000402384.8",
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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
}