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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: 10-132157084-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132157084&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 132157084,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000684848.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null,
"transcript": "NM_001323087.2",
"protein_id": "NP_001310016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": -4,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6399,
"mane_select": "ENST00000684848.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null,
"transcript": "ENST00000684848.1",
"protein_id": "ENSP00000508932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": -4,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6399,
"mane_select": "NM_001323087.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "n.1594+3094C>T",
"hgvs_p": null,
"transcript": "ENST00000477275.1",
"protein_id": null,
"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": 5440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305036",
"gene_hgnc_id": null,
"hgvs_c": "n.603G>A",
"hgvs_p": null,
"transcript": "ENST00000807988.1",
"protein_id": null,
"transcript_support_level": null,
"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": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null,
"transcript": "NM_001323086.2",
"protein_id": "NP_001310015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 990,
"cds_start": -4,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null,
"transcript": "ENST00000666210.1",
"protein_id": "ENSP00000499222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 990,
"cds_start": -4,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2268+3094C>T",
"hgvs_p": null,
"transcript": "NM_001392039.1",
"protein_id": "NP_001378968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": -4,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2280+3094C>T",
"hgvs_p": null,
"transcript": "NM_001392040.1",
"protein_id": "NP_001378969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": -4,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null,
"transcript": "NM_001392041.1",
"protein_id": "NP_001378970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": -4,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null,
"transcript": "NM_001392042.1",
"protein_id": "NP_001378971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null,
"transcript": "ENST00000657785.1",
"protein_id": "ENSP00000499291.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null,
"transcript": "ENST00000666974.1",
"protein_id": "ENSP00000499416.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2214+3094C>T",
"hgvs_p": null,
"transcript": "NM_001105521.4",
"protein_id": "NP_001098991.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2214+3094C>T",
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"transcript": "NM_001323088.2",
"protein_id": "NP_001310017.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 19,
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"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2214+3094C>T",
"hgvs_p": null,
"transcript": "NM_001323090.2",
"protein_id": "NP_001310019.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 19,
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"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2214+3094C>T",
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"transcript": "NM_001392043.1",
"protein_id": "NP_001378972.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 19,
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"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2214+3094C>T",
"hgvs_p": null,
"transcript": "NM_001392044.1",
"protein_id": "NP_001378973.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
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"hgvs_c": "c.2214+3094C>T",
"hgvs_p": null,
"transcript": "NM_001392045.1",
"protein_id": "NP_001378974.1",
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"aa_start": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 19,
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"gene_symbol": "JAKMIP3",
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"hgvs_c": "c.2214+3094C>T",
"hgvs_p": null,
"transcript": "NM_001392046.1",
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},
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],
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"gene_symbol": "JAKMIP3",
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"hgvs_c": "c.2214+3094C>T",
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"transcript": "NM_001392047.1",
"protein_id": "NP_001378976.1",
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},
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],
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"gene_symbol": "JAKMIP3",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2214+3094C>T",
"hgvs_p": null,
"transcript": "NM_001392049.1",
"protein_id": "NP_001378978.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "JAKMIP3",
"gene_hgnc_id": 23523,
"hgvs_c": "c.2214+3094C>T",
"hgvs_p": null,
"transcript": "ENST00000298622.9",
"protein_id": "ENSP00000298622.4",
"transcript_support_level": 5,
"aa_start": null,
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000684848.1",
"gene_symbol": "JAKMIP3",
"hgnc_id": 23523,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2220+3094C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000807988.1",
"gene_symbol": "ENSG00000305036",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.603G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}