← Back to variant description
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: 6-116435739-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=116435739&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 116435739,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000644252.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Glu",
"transcript": "NM_013352.4",
"protein_id": "NP_037484.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 958,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 10621,
"mane_select": "ENST00000644252.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Glu",
"transcript": "ENST00000644252.3",
"protein_id": "ENSP00000494147.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 958,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 10621,
"mane_select": "NM_013352.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Glu",
"transcript": "ENST00000452085.7",
"protein_id": "ENSP00000404049.2",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 958,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 10586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.*136G>A",
"hgvs_p": null,
"transcript": "ENST00000359564.3",
"protein_id": "ENSP00000352567.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": -4,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285446",
"gene_hgnc_id": null,
"hgvs_c": "c.766+4546G>A",
"hgvs_p": null,
"transcript": "ENST00000644499.1",
"protein_id": "ENSP00000495266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.1328G>A",
"hgvs_p": "p.Gly443Glu",
"transcript": "NM_001322939.2",
"protein_id": "NP_001309868.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 977,
"cds_start": 1328,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 10555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Glu",
"transcript": "NM_001080976.3",
"protein_id": "NP_001074445.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 958,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 10621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Glu",
"transcript": "NM_001322937.2",
"protein_id": "NP_001309866.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 958,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 11181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Glu",
"transcript": "NM_001322938.2",
"protein_id": "NP_001309867.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 958,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 11093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Glu",
"transcript": "ENST00000331677.7",
"protein_id": "ENSP00000332151.2",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 958,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Gly237Glu",
"transcript": "NM_001322940.2",
"protein_id": "NP_001309869.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 771,
"cds_start": 710,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 11177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Gly237Glu",
"transcript": "NM_001322941.2",
"protein_id": "NP_001309870.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 771,
"cds_start": 710,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 10617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.272G>A",
"hgvs_p": "p.Gly91Glu",
"transcript": "NM_001374520.1",
"protein_id": "NP_001361449.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 625,
"cds_start": 272,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 11082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Gly79Glu",
"transcript": "NM_001374521.1",
"protein_id": "NP_001361450.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 613,
"cds_start": 236,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 10733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "n.1175G>A",
"hgvs_p": null,
"transcript": "ENST00000606712.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "n.1287G>A",
"hgvs_p": null,
"transcript": "NR_136524.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.*136G>A",
"hgvs_p": null,
"transcript": "NM_001322944.2",
"protein_id": "NP_001309873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": -4,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.*136G>A",
"hgvs_p": null,
"transcript": "NM_001322943.2",
"protein_id": "NP_001309872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.*136G>A",
"hgvs_p": null,
"transcript": "ENST00000646710.1",
"protein_id": "ENSP00000495970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.*136G>A",
"hgvs_p": null,
"transcript": "ENST00000647244.1",
"protein_id": "ENSP00000495184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"dbsnp": "rs1554228071",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8939601182937622,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.69,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.932,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000644252.3",
"gene_symbol": "DSE",
"hgnc_id": 21144,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Glu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000644499.1",
"gene_symbol": "ENSG00000285446",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.766+4546G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}