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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: 6-159692690-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=159692690&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 159692690,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000538183.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "NM_000636.4",
"protein_id": "NP_000627.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 197,
"cds_end": null,
"cds_length": 669,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 14167,
"mane_select": "ENST00000538183.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "ENST00000538183.7",
"protein_id": "ENSP00000446252.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 197,
"cds_end": null,
"cds_length": 669,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 14167,
"mane_select": "NM_000636.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "ENST00000367055.8",
"protein_id": "ENSP00000356022.4",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 197,
"cds_end": null,
"cds_length": 669,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "ENST00000452684.2",
"protein_id": "ENSP00000406713.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 140,
"cds_start": 197,
"cds_end": null,
"cds_length": 423,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "NM_001024465.3",
"protein_id": "NP_001019636.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 222,
"cds_start": 197,
"cds_end": null,
"cds_length": 669,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.266A>T",
"hgvs_p": "p.Glu89Val",
"transcript": "ENST00000545162.5",
"protein_id": "ENSP00000441362.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 189,
"cds_start": 266,
"cds_end": null,
"cds_length": 571,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "NM_001024466.3",
"protein_id": "NP_001019637.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 183,
"cds_start": 197,
"cds_end": null,
"cds_length": 552,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "NM_001322814.2",
"protein_id": "NP_001309743.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 183,
"cds_start": 197,
"cds_end": null,
"cds_length": 552,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 14050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "ENST00000337404.8",
"protein_id": "ENSP00000337127.4",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 183,
"cds_start": 197,
"cds_end": null,
"cds_length": 552,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "ENST00000367054.6",
"protein_id": "ENSP00000356021.2",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 183,
"cds_start": 197,
"cds_end": null,
"cds_length": 552,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.266A>T",
"hgvs_p": "p.Glu89Val",
"transcript": "ENST00000535561.5",
"protein_id": "ENSP00000445015.1",
"transcript_support_level": 3,
"aa_start": 89,
"aa_end": null,
"aa_length": 182,
"cds_start": 266,
"cds_end": null,
"cds_length": 550,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.59A>T",
"hgvs_p": "p.Glu20Val",
"transcript": "NM_001322817.2",
"protein_id": "NP_001309746.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 176,
"cds_start": 59,
"cds_end": null,
"cds_length": 531,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.59A>T",
"hgvs_p": "p.Glu20Val",
"transcript": "NM_001322819.2",
"protein_id": "NP_001309748.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 176,
"cds_start": 59,
"cds_end": null,
"cds_length": 531,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 14189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.59A>T",
"hgvs_p": "p.Glu20Val",
"transcript": "NM_001322820.2",
"protein_id": "NP_001309749.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 176,
"cds_start": 59,
"cds_end": null,
"cds_length": 531,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 14169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.59A>T",
"hgvs_p": "p.Glu20Val",
"transcript": "ENST00000546087.5",
"protein_id": "ENSP00000442920.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 176,
"cds_start": 59,
"cds_end": null,
"cds_length": 531,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "NM_001322815.2",
"protein_id": "NP_001309744.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 162,
"cds_start": 197,
"cds_end": null,
"cds_length": 489,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 13987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "ENST00000444946.6",
"protein_id": "ENSP00000404804.2",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 162,
"cds_start": 197,
"cds_end": null,
"cds_length": 489,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val",
"transcript": "NM_001322816.2",
"protein_id": "NP_001309745.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 140,
"cds_start": 197,
"cds_end": null,
"cds_length": 423,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.59A>T",
"hgvs_p": "p.Glu20Val",
"transcript": "ENST00000537657.5",
"protein_id": "ENSP00000439191.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 110,
"cds_start": 59,
"cds_end": null,
"cds_length": 335,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "c.59A>T",
"hgvs_p": "p.Glu20Val",
"transcript": "ENST00000401980.3",
"protein_id": "ENSP00000384196.3",
"transcript_support_level": 4,
"aa_start": 20,
"aa_end": null,
"aa_length": 60,
"cds_start": 59,
"cds_end": null,
"cds_length": 183,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "n.197A>T",
"hgvs_p": null,
"transcript": "ENST00000546260.5",
"protein_id": "ENSP00000440131.1",
"transcript_support_level": 5,
"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": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD2",
"gene_hgnc_id": 11180,
"hgvs_c": "n.-40A>T",
"hgvs_p": null,
"transcript": "ENST00000540491.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SOD2",
"gene_hgnc_id": 11180,
"dbsnp": "rs5746097",
"frequency_reference_population": 0.0000020522418,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205224,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7289145588874817,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.295,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4357,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.6,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000538183.7",
"gene_symbol": "SOD2",
"hgnc_id": 11180,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.197A>T",
"hgvs_p": "p.Glu66Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}