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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: 19-16226445-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16226445&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AP1M1",
"hgnc_id": 13667,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Cys",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001130524.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.3194,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8569542169570923,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12859,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1272,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_032493.4",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000291439.8",
"protein_coding": true,
"protein_id": "NP_115882.1",
"strand": true,
"transcript": "NM_032493.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12859,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1272,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000291439.8",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032493.4",
"protein_coding": true,
"protein_id": "ENSP00000291439.2",
"strand": true,
"transcript": "ENST00000291439.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1308,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000444449.6",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388996.1",
"strand": true,
"transcript": "ENST00000444449.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1395,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908210.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578269.1",
"strand": true,
"transcript": "ENST00000908210.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1359,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908208.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578267.1",
"strand": true,
"transcript": "ENST00000908208.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12895,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1308,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001130524.2",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123996.1",
"strand": true,
"transcript": "NM_001130524.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1266,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908211.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578270.1",
"strand": true,
"transcript": "ENST00000908211.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1266,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918451.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Arg189Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588510.1",
"strand": true,
"transcript": "ENST00000918451.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1260,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908213.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578272.1",
"strand": true,
"transcript": "ENST00000908213.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1257,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955724.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625783.1",
"strand": true,
"transcript": "ENST00000955724.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 382,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1149,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908212.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578271.1",
"strand": true,
"transcript": "ENST00000908212.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 370,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1113,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000429941.6",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411498.2",
"strand": true,
"transcript": "ENST00000429941.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1056,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000590756.5",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Arg119Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465224.1",
"strand": true,
"transcript": "ENST00000590756.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1047,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955723.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Arg116Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625782.1",
"strand": true,
"transcript": "ENST00000955723.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": null,
"cds_end": null,
"cds_length": 771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908209.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "c.547-7048C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578268.1",
"strand": true,
"transcript": "ENST00000908209.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000586461.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "n.244C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000586461.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000591966.1",
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"hgvs_c": "n.353C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000591966.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs780968690",
"effect": "missense_variant",
"frequency_reference_population": 0.000006400647,
"gene_hgnc_id": 13667,
"gene_symbol": "AP1M1",
"gnomad_exomes_ac": 8,
"gnomad_exomes_af": 0.00000567299,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131447,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.783,
"pos": 16226445,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.426,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_001130524.2"
}
]
}