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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: 16-10532941-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10532941&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10532941,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001424.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "NM_001424.6",
"protein_id": "NP_001415.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": "ENST00000359543.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000359543.8",
"protein_id": "ENSP00000352540.3",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": "NM_001424.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359543.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000536829.1",
"protein_id": "ENSP00000445712.1",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536829.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000867006.1",
"protein_id": "ENSP00000537065.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867006.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000867008.1",
"protein_id": "ENSP00000537067.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867008.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000867010.1",
"protein_id": "ENSP00000537069.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867010.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000867011.1",
"protein_id": "ENSP00000537070.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867011.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000867012.1",
"protein_id": "ENSP00000537071.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867012.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000867013.1",
"protein_id": "ENSP00000537072.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867013.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000971799.1",
"protein_id": "ENSP00000641858.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971799.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000971800.1",
"protein_id": "ENSP00000641859.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971800.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000971801.1",
"protein_id": "ENSP00000641860.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 167,
"cds_start": 468,
"cds_end": null,
"cds_length": 504,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971801.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.432C>G",
"hgvs_p": "p.Ser144Arg",
"transcript": "ENST00000867009.1",
"protein_id": "ENSP00000537068.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 432,
"cds_end": null,
"cds_length": 468,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867009.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.432C>G",
"hgvs_p": "p.Ser144Arg",
"transcript": "ENST00000867014.1",
"protein_id": "ENSP00000537073.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 155,
"cds_start": 432,
"cds_end": null,
"cds_length": 468,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867014.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMP2",
"gene_hgnc_id": 3334,
"hgvs_c": "c.321C>G",
"hgvs_p": "p.Ser107Arg",
"transcript": "ENST00000867007.1",
"protein_id": "ENSP00000537066.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 118,
"cds_start": 321,
"cds_end": null,
"cds_length": 357,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867007.1"
}
],
"gene_symbol": "EMP2",
"gene_hgnc_id": 3334,
"dbsnp": "rs141501308",
"frequency_reference_population": 0.0000018736487,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000138011,
"gnomad_genomes_af": 0.00000657912,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.966360330581665,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.787,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.255,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001424.6",
"gene_symbol": "EMP2",
"hgnc_id": 3334,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.468C>G",
"hgvs_p": "p.Ser156Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}