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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: 10-97619604-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97619604&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97619604,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178832.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "NM_178832.4",
"protein_id": "NP_849154.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 146,
"cds_start": 50,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307450.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178832.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000307450.11",
"protein_id": "ENSP00000307636.6",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 146,
"cds_start": 50,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178832.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307450.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000370635.3",
"protein_id": "ENSP00000359669.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 46,
"cds_start": 50,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370635.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249967",
"gene_hgnc_id": null,
"hgvs_c": "c.345+17614C>T",
"hgvs_p": null,
"transcript": "ENST00000370649.3",
"protein_id": "ENSP00000359683.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370649.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000955198.1",
"protein_id": "ENSP00000625257.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 154,
"cds_start": 50,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955198.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "NM_001098831.2",
"protein_id": "NP_001092301.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 146,
"cds_start": 50,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098831.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000929312.1",
"protein_id": "ENSP00000599371.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 146,
"cds_start": 50,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929312.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000929313.1",
"protein_id": "ENSP00000599372.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 146,
"cds_start": 50,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929313.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000955199.1",
"protein_id": "ENSP00000625258.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 146,
"cds_start": 50,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955199.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "ENST00000478953.1",
"protein_id": "ENSP00000441070.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 66,
"cds_start": 50,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478953.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"transcript": "XM_011539251.4",
"protein_id": "XP_011537553.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 146,
"cds_start": 50,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539251.4"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"hgvs_c": "c.16+34G>A",
"hgvs_p": null,
"transcript": "ENST00000929314.1",
"protein_id": "ENSP00000599373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": null,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929314.1"
}
],
"gene_symbol": "MORN4",
"gene_hgnc_id": 24001,
"dbsnp": "rs375012522",
"frequency_reference_population": 0.000089859284,
"hom_count_reference_population": 2,
"allele_count_reference_population": 145,
"gnomad_exomes_af": 0.0000930541,
"gnomad_genomes_af": 0.0000591646,
"gnomad_exomes_ac": 136,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09946265816688538,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0747,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.375,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_178832.4",
"gene_symbol": "MORN4",
"hgnc_id": 24001,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000370649.3",
"gene_symbol": "ENSG00000249967",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.345+17614C>T",
"hgvs_p": null
}
],
"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
}