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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-ATTTTTTTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=451977&ref=ATTTTTTTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 451977,
"ref": "ATTTTTTTT",
"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.5962-16_5962-9delTTTTTTTT",
"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_5962-26delTTTTTTTT",
"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_5662-26delTTTTTTTT",
"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_5662-26delTTTTTTTT",
"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_7917-26delTTTTTTTT",
"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.5758-16_5758-9delTTTTTTTT",
"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_5758-26delTTTTTTTT",
"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,
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"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.5662-16_5662-9delTTTTTTTT",
"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_2437-26delTTTTTTTT",
"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,
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"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "n.1643-33_1643-26delTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000684637.1",
"protein_id": null,
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"aa_start": null,
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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": 35,
"intron_rank": 32,
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"gene_symbol": "DOCK8",
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"hgvs_c": "n.4750-33_4750-26delTTTTTTTT",
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"transcript": "ENST00000685949.1",
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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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},
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],
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"gene_symbol": "DOCK8",
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],
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"gene_symbol": "DOCK8",
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"hgvs_c": "c.5824-16_5824-9delTTTTTTTT",
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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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"hgvs_c": "c.5758-16_5758-9delTTTTTTTT",
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},
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],
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"gene_symbol": "DOCK8",
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"hgvs_c": "c.5758-16_5758-9delTTTTTTTT",
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"transcript": "XM_047423928.1",
"protein_id": "XP_047279884.1",
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},
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],
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"gene_symbol": "DOCK8",
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"hgvs_c": "c.5758-16_5758-9delTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047423935.1",
"protein_id": "XP_047279891.1",
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],
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},
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],
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"hgvs_c": "c.5728-16_5728-9delTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047423936.1",
"protein_id": "XP_047279892.1",
"transcript_support_level": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DOCK8",
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"hgvs_c": "c.5662-16_5662-9delTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047423930.1",
"protein_id": "XP_047279886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2001,
"cds_start": -4,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
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"cdna_length": 6333,
"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.5662-16_5662-9delTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047423937.1",
"protein_id": "XP_047279893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2001,
"cds_start": -4,
"cds_end": null,
"cds_length": 6006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6225,
"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.5662-16_5662-9delTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_011518045.4",
"protein_id": "XP_011516347.1",
"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": 7247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK8",
"gene_hgnc_id": 19191,
"dbsnp": "rs35071801",
"frequency_reference_population": 0.016081978,
"hom_count_reference_population": 12,
"allele_count_reference_population": 1334,
"gnomad_exomes_af": 0.0157969,
"gnomad_genomes_af": 0.016082,
"gnomad_exomes_ac": 1574,
"gnomad_genomes_ac": 1334,
"gnomad_exomes_homalt": 172,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.342,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_203447.4",
"gene_symbol": "DOCK8",
"hgnc_id": 19191,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5962-16_5962-9delTTTTTTTT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided|",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}