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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: 9-451977-ATTTTTTTTTTTTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=451977&ref=ATTTTTTTTTTTTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 451977,
"ref": "ATTTTTTTTTTTTT",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_203447.4",
"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": 48,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5962-21_5962-9delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_203447.4",
"protein_id": "NP_982272.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2099,
"cds_start": -4,
"cds_end": null,
"cds_length": 6300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": "ENST00000432829.7",
"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": 48,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5962-33_5962-21delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000432829.7",
"protein_id": "ENSP00000394888.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2099,
"cds_start": -4,
"cds_end": null,
"cds_length": 6300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7448,
"mane_select": "NM_203447.4",
"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": 46,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5662-33_5662-21delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000469391.5",
"protein_id": "ENSP00000419438.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1999,
"cds_start": -4,
"cds_end": null,
"cds_length": 6000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6386,
"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": 46,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5662-33_5662-21delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000382329.2",
"protein_id": "ENSP00000371766.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1936,
"cds_start": -4,
"cds_end": null,
"cds_length": 5811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6538,
"mane_select": null,
"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": 46,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.7917-33_7917-21delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000495184.5",
"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": 9277,
"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": 47,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5758-21_5758-9delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001193536.2",
"protein_id": "NP_001180465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2031,
"cds_start": -4,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7235,
"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": 47,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5758-33_5758-21delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000453981.5",
"protein_id": "ENSP00000408464.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2031,
"cds_start": -4,
"cds_end": null,
"cds_length": 6096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7237,
"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": 46,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5662-21_5662-9delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001190458.2",
"protein_id": "NP_001177387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1999,
"cds_start": -4,
"cds_end": null,
"cds_length": 6000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7139,
"mane_select": null,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.2437-33_2437-21delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000683406.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.1643-33_1643-21delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000684637.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.4750-33_4750-21delTTTTTTTTTTTTT",
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"transcript": "ENST00000685949.1",
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},
{
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],
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"transcript": "XM_047423931.1",
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},
{
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],
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"gene_symbol": "DOCK8",
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},
{
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],
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"gene_symbol": "DOCK8",
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{
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],
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"gene_symbol": "DOCK8",
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"hgvs_c": "c.5824-21_5824-9delTTTTTTTTTTTTT",
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"transcript": "XM_011518046.3",
"protein_id": "XP_011516348.1",
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},
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],
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"gene_symbol": "DOCK8",
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},
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],
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"gene_symbol": "DOCK8",
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"hgvs_c": "c.5758-21_5758-9delTTTTTTTTTTTTT",
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"transcript": "XM_047423928.1",
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],
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"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5758-21_5758-9delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047423935.1",
"protein_id": "XP_047279891.1",
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},
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],
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"hgvs_c": "c.5758-21_5758-9delTTTTTTTTTTTTT",
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],
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 44,
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"gene_symbol": "DOCK8",
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"hgvs_c": "c.5728-21_5728-9delTTTTTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047423936.1",
"protein_id": "XP_047279892.1",
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},
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],
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{
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{
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}
],
"gene_symbol": "DOCK8",
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.342,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -4,
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"acmg_criteria": "BS1",
"acmg_by_gene": [
{
"score": -4,
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"criteria": [
"BS1"
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"verdict": "Likely_benign",
"transcript": "NM_203447.4",
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"effects": [
"intron_variant"
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"hgvs_c": "c.5962-21_5962-9delTTTTTTTTTTTTT",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}