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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: 21-29678497-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29678497&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29678497,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000327783.9",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_001330994.2",
"protein_id": "NP_001317923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": -4,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": "ENST00000327783.9",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "ENST00000327783.9",
"protein_id": "ENSP00000327687.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": -4,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": "NM_001330994.2",
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "ENST00000399907.6",
"protein_id": "ENSP00000382791.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5861,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "ENST00000389125.7",
"protein_id": "ENSP00000373777.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3140,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "n.1078-5333C>T",
"hgvs_p": null,
"transcript": "ENST00000472429.1",
"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": 1775,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_001330993.2",
"protein_id": "NP_001317922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3598,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "ENST00000399914.5",
"protein_id": "ENSP00000382798.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3624,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_001320616.2",
"protein_id": "NP_001307545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3556,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "ENST00000399913.5",
"protein_id": "ENSP00000382797.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3234,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_000830.6",
"protein_id": "NP_000821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5861,
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_175611.3",
"protein_id": "NP_783300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
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"cds_length": 2718,
"cdna_start": null,
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"cdna_length": 3511,
"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,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
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"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_001410706.1",
"protein_id": "NP_001397635.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 903,
"cds_start": -4,
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"cdna_start": null,
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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,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "ENST00000399909.5",
"protein_id": "ENSP00000382793.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": 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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_001393425.1",
"protein_id": "NP_001380354.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "ENST00000389124.6",
"protein_id": "ENSP00000373776.2",
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"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_001393424.1",
"protein_id": "NP_001380353.1",
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},
{
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 2,
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"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.377-5333C>T",
"hgvs_p": null,
"transcript": "NM_001393426.1",
"protein_id": "NP_001380355.1",
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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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.377-5333C>T",
"hgvs_p": null,
"transcript": "NM_001320618.2",
"protein_id": "NP_001307547.1",
"transcript_support_level": null,
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"aa_length": 781,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "GRIK1",
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"hgvs_c": "c.119-5333C>T",
"hgvs_p": null,
"transcript": "NM_001320621.2",
"protein_id": "NP_001307550.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "NM_001320630.2",
"protein_id": "NP_001307559.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"hgvs_c": "c.545-5333C>T",
"hgvs_p": null,
"transcript": "XM_047440744.1",
"protein_id": "XP_047296700.1",
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "GRIK1",
"gene_hgnc_id": 4579,
"dbsnp": "rs363512",
"frequency_reference_population": 0.13140199,
"hom_count_reference_population": 1900,
"allele_count_reference_population": 19971,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.131402,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 19971,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1900,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.163,
"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": "ENST00000327783.9",
"gene_symbol": "GRIK1",
"hgnc_id": 4579,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.545-5333C>T",
"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
}