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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: 19-10581380-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10581380&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10581380,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001300887.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "NM_005498.5",
"protein_id": "NP_005489.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 423,
"cds_start": 559,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250244.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005498.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "ENST00000250244.11",
"protein_id": "ENSP00000250244.5",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 423,
"cds_start": 559,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005498.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250244.11"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "ENST00000590923.5",
"protein_id": "ENSP00000465685.1",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 425,
"cds_start": 559,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590923.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "NM_001300887.2",
"protein_id": "NP_001287816.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 425,
"cds_start": 559,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300887.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "ENST00000918520.1",
"protein_id": "ENSP00000588579.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 421,
"cds_start": 559,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918520.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "ENST00000918526.1",
"protein_id": "ENSP00000588585.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 418,
"cds_start": 559,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918526.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Gly180Ser",
"transcript": "ENST00000918530.1",
"protein_id": "ENSP00000588589.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 416,
"cds_start": 538,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918530.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Gly152Ser",
"transcript": "ENST00000918525.1",
"protein_id": "ENSP00000588584.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 390,
"cds_start": 454,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918525.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Gly152Ser",
"transcript": "ENST00000918522.1",
"protein_id": "ENSP00000588581.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 388,
"cds_start": 454,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918522.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "ENST00000918524.1",
"protein_id": "ENSP00000588583.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 372,
"cds_start": 559,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918524.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "ENST00000903393.1",
"protein_id": "ENSP00000573452.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 370,
"cds_start": 559,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903393.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"transcript": "ENST00000918521.1",
"protein_id": "ENSP00000588580.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 350,
"cds_start": 334,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918521.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser",
"transcript": "ENST00000918528.1",
"protein_id": "ENSP00000588587.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 348,
"cds_start": 559,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918528.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"transcript": "ENST00000918529.1",
"protein_id": "ENSP00000588588.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 318,
"cds_start": 334,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918529.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Gly267Ser",
"transcript": "ENST00000591676.1",
"protein_id": "ENSP00000466494.1",
"transcript_support_level": 5,
"aa_start": 267,
"aa_end": null,
"aa_length": 298,
"cds_start": 799,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591676.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.322G>A",
"hgvs_p": "p.Gly108Ser",
"transcript": "ENST00000591240.5",
"protein_id": "ENSP00000465193.1",
"transcript_support_level": 3,
"aa_start": 108,
"aa_end": null,
"aa_length": 244,
"cds_start": 322,
"cds_end": null,
"cds_length": 736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591240.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000589684.5",
"protein_id": "ENSP00000467498.1",
"transcript_support_level": 3,
"aa_start": 161,
"aa_end": null,
"aa_length": 238,
"cds_start": 481,
"cds_end": null,
"cds_length": 718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589684.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "XM_047438018.1",
"protein_id": "XP_047293974.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 399,
"cds_start": 481,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438018.1"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.546+107G>A",
"hgvs_p": null,
"transcript": "ENST00000918523.1",
"protein_id": "ENSP00000588582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918523.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.267+2226G>A",
"hgvs_p": null,
"transcript": "ENST00000918527.1",
"protein_id": "ENSP00000588586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918527.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"hgvs_c": "c.42+5810G>A",
"hgvs_p": null,
"transcript": "ENST00000918531.1",
"protein_id": "ENSP00000588590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 85,
"cds_start": null,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918531.1"
}
],
"gene_symbol": "AP1M2",
"gene_hgnc_id": 558,
"dbsnp": "rs746592679",
"frequency_reference_population": 0.000010545539,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000109595,
"gnomad_genomes_af": 0.00000657298,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9722965359687805,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.589,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5309,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.892,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001300887.2",
"gene_symbol": "AP1M2",
"hgnc_id": 558,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}