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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-55159199-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=55159199&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 55159199,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001166699.2",
"consequences": [
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "NM_001166701.4",
"protein_id": "NP_001160173.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 115,
"cds_start": 50,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000685693.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166701.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000685693.1",
"protein_id": "ENSP00000509111.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 115,
"cds_start": 50,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001166701.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685693.1"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000332132.8",
"protein_id": "ENSP00000333394.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 116,
"cds_start": 50,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332132.8"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000358460.8",
"protein_id": "ENSP00000364101.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 115,
"cds_start": 50,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358460.8"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000472571.2",
"protein_id": "ENSP00000420895.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 46,
"cds_start": 50,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472571.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000874380.1",
"protein_id": "ENSP00000544439.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 119,
"cds_start": 50,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874380.1"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "NM_001166699.2",
"protein_id": "NP_001160171.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 116,
"cds_start": 50,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166699.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "NM_001166700.2",
"protein_id": "NP_001160172.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 116,
"cds_start": 50,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166700.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "ENST00000425133.2",
"protein_id": "ENSP00000397188.2",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 116,
"cds_start": 50,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425133.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "NM_138362.4",
"protein_id": "NP_612371.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 115,
"cds_start": 50,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138362.4"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.47G>T",
"hgvs_p": "p.Gly16Val",
"transcript": "NM_001166703.2",
"protein_id": "NP_001160175.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 114,
"cds_start": 47,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166703.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.47G>T",
"hgvs_p": "p.Gly16Val",
"transcript": "ENST00000489298.1",
"protein_id": "ENSP00000423164.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 114,
"cds_start": 47,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489298.1"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Gly14Val",
"transcript": "NM_001166702.2",
"protein_id": "NP_001160174.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 112,
"cds_start": 41,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166702.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Gly14Val",
"transcript": "ENST00000477847.6",
"protein_id": "ENSP00000421161.1",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 112,
"cds_start": 41,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477847.6"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val",
"transcript": "NM_001166704.2",
"protein_id": "NP_001160176.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 46,
"cds_start": 50,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166704.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.98G>T",
"hgvs_p": "p.Gly33Val",
"transcript": "XM_024452475.2",
"protein_id": "XP_024308243.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 131,
"cds_start": 98,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452475.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.77G>T",
"hgvs_p": "p.Gly26Val",
"transcript": "XM_017029952.2",
"protein_id": "XP_016885441.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 124,
"cds_start": 77,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029952.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Gly14Val",
"transcript": "XM_024452476.2",
"protein_id": "XP_024308244.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 113,
"cds_start": 41,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452476.2"
},
{
"aa_ref": "G",
"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": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "c.41G>T",
"hgvs_p": "p.Gly14Val",
"transcript": "XM_017029953.2",
"protein_id": "XP_016885442.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 112,
"cds_start": 41,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029953.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "n.229G>T",
"hgvs_p": null,
"transcript": "ENST00000478918.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000478918.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VCF2",
"gene_hgnc_id": 25085,
"hgvs_c": "n.79G>T",
"hgvs_p": null,
"transcript": "NR_030722.2",
"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_030722.2"
}
],
"gene_symbol": "VCF2",
"gene_hgnc_id": 25085,
"dbsnp": "rs758818648",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000183404,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07050228118896484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.1375,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.264,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001166699.2",
"gene_symbol": "VCF2",
"hgnc_id": 25085,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.50G>T",
"hgvs_p": "p.Gly17Val"
}
],
"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
}