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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: 6-116431086-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=116431086&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 116431086,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000644252.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "NM_013352.4",
"protein_id": "NP_037484.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 958,
"cds_start": 803,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 10621,
"mane_select": "ENST00000644252.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "ENST00000644252.3",
"protein_id": "ENSP00000494147.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 958,
"cds_start": 803,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 10621,
"mane_select": "NM_013352.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "ENST00000452085.7",
"protein_id": "ENSP00000404049.2",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 958,
"cds_start": 803,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 10586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "ENST00000359564.3",
"protein_id": "ENSP00000352567.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 308,
"cds_start": 803,
"cds_end": null,
"cds_length": 927,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285446",
"gene_hgnc_id": null,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000644499.1",
"protein_id": "ENSP00000495266.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 282,
"cds_start": 659,
"cds_end": null,
"cds_length": 849,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.860C>T",
"hgvs_p": "p.Ser287Leu",
"transcript": "NM_001322939.2",
"protein_id": "NP_001309868.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 977,
"cds_start": 860,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 10555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "NM_001080976.3",
"protein_id": "NP_001074445.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 958,
"cds_start": 803,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 10621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "NM_001322937.2",
"protein_id": "NP_001309866.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 958,
"cds_start": 803,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 11181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "NM_001322938.2",
"protein_id": "NP_001309867.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 958,
"cds_start": 803,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 11093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "ENST00000331677.7",
"protein_id": "ENSP00000332151.2",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 958,
"cds_start": 803,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.242C>T",
"hgvs_p": "p.Ser81Leu",
"transcript": "NM_001322940.2",
"protein_id": "NP_001309869.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 771,
"cds_start": 242,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 11177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.242C>T",
"hgvs_p": "p.Ser81Leu",
"transcript": "NM_001322941.2",
"protein_id": "NP_001309870.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 771,
"cds_start": 242,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 10617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "NM_001374522.1",
"protein_id": "NP_001361451.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 317,
"cds_start": 803,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"transcript": "NM_001322944.2",
"protein_id": "NP_001309873.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 308,
"cds_start": 803,
"cds_end": null,
"cds_length": 927,
"cdna_start": 1031,
"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": false,
"strand": true,
"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": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "n.1027C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.-90+29C>T",
"hgvs_p": null,
"transcript": "NM_001374520.1",
"protein_id": "NP_001361449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.83+4259C>T",
"hgvs_p": null,
"transcript": "NM_001374521.1",
"protein_id": "NP_001361450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": -4,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"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": 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": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.670+4259C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.670+4259C>T",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DSE",
"gene_hgnc_id": 21144,
"hgvs_c": "c.670+4259C>T",
"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": "rs398122361",
"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": 0.7230665683746338,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.447,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9477,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000644252.3",
"gene_symbol": "DSE",
"hgnc_id": 21144,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000644499.1",
"gene_symbol": "ENSG00000285446",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu"
}
],
"clinvar_disease": " musculocontractural type 2,Ehlers-Danlos syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Ehlers-Danlos syndrome, musculocontractural type 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}