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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: 11-67586108-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67586108&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67586108,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000852.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.341C>G",
"hgvs_p": "p.Ala114Gly",
"transcript": "NM_000852.4",
"protein_id": "NP_000843.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 210,
"cds_start": 341,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398606.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000852.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.341C>G",
"hgvs_p": "p.Ala114Gly",
"transcript": "ENST00000398606.10",
"protein_id": "ENSP00000381607.3",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 210,
"cds_start": 341,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000852.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398606.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.341C>G",
"hgvs_p": "p.Ala114Gly",
"transcript": "ENST00000495996.2",
"protein_id": "ENSP00000484686.2",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 230,
"cds_start": 341,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495996.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.329C>G",
"hgvs_p": "p.Ala110Gly",
"transcript": "ENST00000914374.1",
"protein_id": "ENSP00000584433.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 206,
"cds_start": 329,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914374.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.308C>G",
"hgvs_p": "p.Ala103Gly",
"transcript": "ENST00000906566.1",
"protein_id": "ENSP00000576625.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 199,
"cds_start": 308,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906566.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.341C>G",
"hgvs_p": "p.Ala114Gly",
"transcript": "ENST00000914378.1",
"protein_id": "ENSP00000584437.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 194,
"cds_start": 341,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914378.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.275C>G",
"hgvs_p": "p.Ala92Gly",
"transcript": "ENST00000914376.1",
"protein_id": "ENSP00000584435.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 188,
"cds_start": 275,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914376.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.179C>G",
"hgvs_p": "p.Ala60Gly",
"transcript": "ENST00000914373.1",
"protein_id": "ENSP00000584432.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 156,
"cds_start": 179,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914373.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Ala49Gly",
"transcript": "ENST00000914375.1",
"protein_id": "ENSP00000584434.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 145,
"cds_start": 146,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914375.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ala113Gly",
"transcript": "ENST00000906565.1",
"protein_id": "ENSP00000576624.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 209,
"cds_start": 338,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906565.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ala102Gly",
"transcript": "ENST00000914379.1",
"protein_id": "ENSP00000584438.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 198,
"cds_start": 305,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.337-8C>G",
"hgvs_p": null,
"transcript": "ENST00000906567.1",
"protein_id": "ENSP00000576626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906567.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.337-281C>G",
"hgvs_p": null,
"transcript": "ENST00000398603.6",
"protein_id": "ENSP00000381604.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398603.6"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.304-281C>G",
"hgvs_p": null,
"transcript": "ENST00000914380.1",
"protein_id": "ENSP00000584439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914380.1"
},
{
"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": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "c.142-281C>G",
"hgvs_p": null,
"transcript": "ENST00000914377.1",
"protein_id": "ENSP00000584436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914377.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "n.452C>G",
"hgvs_p": null,
"transcript": "ENST00000467591.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467591.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "n.1136C>G",
"hgvs_p": null,
"transcript": "ENST00000494593.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494593.1"
},
{
"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": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "n.*165C>G",
"hgvs_p": null,
"transcript": "ENST00000498765.5",
"protein_id": "ENSP00000484929.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000498765.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "n.*57C>G",
"hgvs_p": null,
"transcript": "ENST00000646888.1",
"protein_id": "ENSP00000494477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646888.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "n.*165C>G",
"hgvs_p": null,
"transcript": "ENST00000498765.5",
"protein_id": "ENSP00000484929.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000498765.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"hgvs_c": "n.*57C>G",
"hgvs_p": null,
"transcript": "ENST00000646888.1",
"protein_id": "ENSP00000494477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646888.1"
}
],
"gene_symbol": "GSTP1",
"gene_hgnc_id": 4638,
"dbsnp": "rs1138272",
"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": 0.048787593841552734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.1142,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.032,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_000852.4",
"gene_symbol": "GSTP1",
"hgnc_id": 4638,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.341C>G",
"hgvs_p": "p.Ala114Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}