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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: 5-150223261-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150223261&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150223261,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000671881.1",
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1238-44G>A",
"hgvs_p": null,
"transcript": "NM_015981.4",
"protein_id": "NP_057065.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": "ENST00000671881.1",
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1238-44G>A",
"hgvs_p": null,
"transcript": "ENST00000671881.1",
"protein_id": "ENSP00000500386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": "NM_015981.4",
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1205-44G>A",
"hgvs_p": null,
"transcript": "ENST00000348628.11",
"protein_id": "ENSP00000261793.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4823,
"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": 14,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1034-44G>A",
"hgvs_p": null,
"transcript": "ENST00000398376.8",
"protein_id": "ENSP00000381412.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1425,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "n.1145G>A",
"hgvs_p": null,
"transcript": "ENST00000683273.1",
"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": 2364,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1143-44G>A",
"hgvs_p": null,
"transcript": "ENST00000672396.1",
"protein_id": "ENSP00000499987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": -4,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2424,
"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": 15,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1110-44G>A",
"hgvs_p": null,
"transcript": "ENST00000510347.2",
"protein_id": "ENSP00000426607.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": -4,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2324,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1238-44G>A",
"hgvs_p": null,
"transcript": "NM_001363989.1",
"protein_id": "NP_001350918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5023,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1238-44G>A",
"hgvs_p": null,
"transcript": "ENST00000672829.1",
"protein_id": "ENSP00000500613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2588,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1238-44G>A",
"hgvs_p": null,
"transcript": "ENST00000682786.1",
"protein_id": "ENSP00000507199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3142,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1205-44G>A",
"hgvs_p": null,
"transcript": "NM_001363990.1",
"protein_id": "NP_001350919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4990,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1205-44G>A",
"hgvs_p": null,
"transcript": "NM_001369025.2",
"protein_id": "NP_001355954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4833,
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1205-44G>A",
"hgvs_p": null,
"transcript": "NM_171825.3",
"protein_id": "NP_741960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"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": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1205-44G>A",
"hgvs_p": null,
"transcript": "ENST00000672479.1",
"protein_id": "ENSP00000500642.1",
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"aa_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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1205-44G>A",
"hgvs_p": null,
"transcript": "ENST00000672752.1",
"protein_id": "ENSP00000499939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
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"cdna_start": null,
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"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1172-44G>A",
"hgvs_p": null,
"transcript": "ENST00000672785.1",
"protein_id": "ENSP00000500496.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.1145-44G>A",
"hgvs_p": null,
"transcript": "ENST00000683332.1",
"protein_id": "ENSP00000507006.1",
"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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"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "c.338-44G>A",
"hgvs_p": null,
"transcript": "ENST00000351010.6",
"protein_id": "ENSP00000514006.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
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"cdna_length": 1557,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "n.*73-44G>A",
"hgvs_p": null,
"transcript": "ENST00000672089.1",
"protein_id": "ENSP00000500700.1",
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},
{
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"strand": false,
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],
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"intron_rank": 15,
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"gene_symbol": "CAMK2A",
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"hgvs_c": "n.1363-44G>A",
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"transcript": "ENST00000684093.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "n.281-44G>A",
"hgvs_p": null,
"transcript": "ENST00000684431.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"hgvs_c": "n.1305-44G>A",
"hgvs_p": null,
"transcript": "ENST00000684465.1",
"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": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAMK2A",
"gene_hgnc_id": 1460,
"dbsnp": "rs2241695",
"frequency_reference_population": 0.54268956,
"hom_count_reference_population": 222905,
"allele_count_reference_population": 801076,
"gnomad_exomes_af": 0.551123,
"gnomad_genomes_af": 0.469183,
"gnomad_exomes_ac": 729794,
"gnomad_genomes_ac": 71282,
"gnomad_exomes_homalt": 204353,
"gnomad_genomes_homalt": 18552,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"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": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.527,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000671881.1",
"gene_symbol": "CAMK2A",
"hgnc_id": 1460,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1238-44G>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 53, autosomal recessive 63,Intellectual disability",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Intellectual disability, autosomal recessive 63|Intellectual disability, autosomal dominant 53",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}