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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: 13-19835685-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=19835685&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 19835685,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001142684.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001142684.2",
"protein_id": "NP_001136156.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142684.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000337963.9",
"protein_id": "ENSP00000337034.4",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142684.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337963.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "n.899G>A",
"hgvs_p": null,
"transcript": "ENST00000382909.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000382909.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000854552.1",
"protein_id": "ENSP00000524611.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854552.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000854554.1",
"protein_id": "ENSP00000524613.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854554.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000923234.1",
"protein_id": "ENSP00000593293.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923234.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000923235.1",
"protein_id": "ENSP00000593294.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923235.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000954241.1",
"protein_id": "ENSP00000624300.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954241.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000954242.1",
"protein_id": "ENSP00000624301.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954242.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"transcript": "ENST00000854551.1",
"protein_id": "ENSP00000524610.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 487,
"cds_start": 497,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854551.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"transcript": "ENST00000854553.1",
"protein_id": "ENSP00000524612.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 487,
"cds_start": 497,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854553.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Arg375His",
"transcript": "XM_011535309.3",
"protein_id": "XP_011533611.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 696,
"cds_start": 1124,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535309.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "XM_005266594.4",
"protein_id": "XP_005266651.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266594.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "XM_006719894.4",
"protein_id": "XP_006719957.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 669,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719894.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "XM_011535310.3",
"protein_id": "XP_011533612.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 514,
"cds_start": 578,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535310.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"transcript": "XM_047430768.1",
"protein_id": "XP_047286724.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 487,
"cds_start": 497,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430768.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"transcript": "XM_047430769.1",
"protein_id": "XP_047286725.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 487,
"cds_start": 497,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430769.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.958G>A",
"hgvs_p": "p.Ala320Thr",
"transcript": "XM_024449436.2",
"protein_id": "XP_024305204.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 324,
"cds_start": 958,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449436.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.672G>A",
"hgvs_p": "p.Ser224Ser",
"transcript": "XM_024449437.2",
"protein_id": "XP_024305205.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 225,
"cds_start": 672,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449437.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Ser197Ser",
"transcript": "XM_047430772.1",
"protein_id": "XP_047286728.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 198,
"cds_start": 591,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430772.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"hgvs_c": "n.1238G>A",
"hgvs_p": null,
"transcript": "ENST00000535942.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000535942.5"
}
],
"gene_symbol": "ZMYM5",
"gene_hgnc_id": 13029,
"dbsnp": "rs534076583",
"frequency_reference_population": 0.000027807537,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.000028819,
"gnomad_genomes_af": 0.0000197291,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08535528182983398,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1521,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.142,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001142684.2",
"gene_symbol": "ZMYM5",
"hgnc_id": 13029,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His"
}
],
"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
}