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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: 4-175727181-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=175727181&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 175727181,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000393658.7",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.38-25414G>A",
"hgvs_p": null,
"transcript": "NM_201591.3",
"protein_id": "NP_963885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": "ENST00000393658.7",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.38-25414G>A",
"hgvs_p": null,
"transcript": "ENST00000393658.7",
"protein_id": "ENSP00000377268.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": "NM_201591.3",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.38-25414G>A",
"hgvs_p": null,
"transcript": "ENST00000280187.11",
"protein_id": "ENSP00000280187.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2854,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.5-25414G>A",
"hgvs_p": null,
"transcript": "ENST00000506894.5",
"protein_id": "ENSP00000421578.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2614,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.38-25414G>A",
"hgvs_p": null,
"transcript": "NM_005277.5",
"protein_id": "NP_005268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2912,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.17-25414G>A",
"hgvs_p": null,
"transcript": "NM_001261448.2",
"protein_id": "NP_001248377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2822,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.17-25414G>A",
"hgvs_p": null,
"transcript": "ENST00000515090.5",
"protein_id": "ENSP00000423984.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1500,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.5-25414G>A",
"hgvs_p": null,
"transcript": "NM_201592.3",
"protein_id": "NP_963886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2853,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.14-25414G>A",
"hgvs_p": null,
"transcript": "ENST00000503397.5",
"protein_id": "ENSP00000422959.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 655,
"cdna_start": null,
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"cdna_length": 737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.-152-25414G>A",
"hgvs_p": null,
"transcript": "NM_001388090.1",
"protein_id": "NP_001375019.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "c.-6-75194G>A",
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"transcript": "NM_001261447.2",
"protein_id": "NP_001248376.2",
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},
{
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],
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},
{
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],
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"gene_symbol": "GPM6A",
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},
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],
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"gene_symbol": "GPM6A",
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},
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],
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},
{
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],
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"gene_symbol": "GPM6A",
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},
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],
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"gene_symbol": "GPM6A",
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"hgvs_c": "c.-152-25414G>A",
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},
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},
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],
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"gene_symbol": "GPM6A",
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"hgvs_c": "c.-152-25414G>A",
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"transcript": "ENST00000512897.5",
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},
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "GPM6A",
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"hgvs_c": "c.-152-25414G>A",
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"transcript": "ENST00000507540.1",
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"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"hgvs_c": "n.145-75194G>A",
"hgvs_p": null,
"transcript": "NR_048571.2",
"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,
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"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GPM6A",
"gene_hgnc_id": 4460,
"dbsnp": "rs9284954",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.345,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393658.7",
"gene_symbol": "GPM6A",
"hgnc_id": 4460,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.38-25414G>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
}