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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: X-70134042-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=70134042&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 70134042,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001551.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "NM_001551.3",
"protein_id": "NP_001542.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 339,
"cds_start": 95,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356413.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001551.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000356413.5",
"protein_id": "ENSP00000348784.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 339,
"cds_start": 95,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001551.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356413.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000342206.10",
"protein_id": "ENSP00000363661.5",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 339,
"cds_start": 95,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342206.10"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "NM_001370192.1",
"protein_id": "NP_001357121.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 339,
"cds_start": 95,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370192.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "NM_001370193.1",
"protein_id": "NP_001357122.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 339,
"cds_start": 95,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370193.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000937166.1",
"protein_id": "ENSP00000607225.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 339,
"cds_start": 95,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937166.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000937167.1",
"protein_id": "ENSP00000607226.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 339,
"cds_start": 95,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937167.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000943387.1",
"protein_id": "ENSP00000613446.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 339,
"cds_start": 95,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943387.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000937168.1",
"protein_id": "ENSP00000607227.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 337,
"cds_start": 95,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937168.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000937170.1",
"protein_id": "ENSP00000607229.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 301,
"cds_start": 95,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937170.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000937169.1",
"protein_id": "ENSP00000607228.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 274,
"cds_start": 95,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937169.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "NM_001370194.1",
"protein_id": "NP_001357123.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 247,
"cds_start": 95,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370194.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000943388.1",
"protein_id": "ENSP00000613447.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 247,
"cds_start": 95,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943388.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His",
"transcript": "ENST00000865225.1",
"protein_id": "ENSP00000535284.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 241,
"cds_start": 95,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "n.108C>A",
"hgvs_p": null,
"transcript": "NR_199784.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_199784.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "n.108C>A",
"hgvs_p": null,
"transcript": "NR_199785.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_199785.1"
}
],
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"dbsnp": "rs1351574575",
"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": 0.876514196395874,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.371,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.235,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.18,
"phylop100way_prediction": "Uncertain_significance",
"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": "NM_001551.3",
"gene_symbol": "IGBP1",
"hgnc_id": 5461,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown,AD",
"hgvs_c": "c.95C>A",
"hgvs_p": "p.Pro32His"
}
],
"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
}