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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: 6-79025985-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=79025985&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 79025985,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_017934.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "NM_017934.7",
"protein_id": "NP_060404.4",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1821,
"cds_start": 779,
"cds_end": null,
"cds_length": 5466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000275034.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017934.7"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "ENST00000275034.5",
"protein_id": "ENSP00000275034.3",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 1821,
"cds_start": 779,
"cds_end": null,
"cds_length": 5466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017934.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275034.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "ENST00000700118.1",
"protein_id": "ENSP00000514810.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1834,
"cds_start": 779,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700118.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.797delT",
"hgvs_p": "p.Leu266fs",
"transcript": "ENST00000700013.1",
"protein_id": "ENSP00000514754.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 1827,
"cds_start": 797,
"cds_end": null,
"cds_length": 5484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700013.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "ENST00000700115.1",
"protein_id": "ENSP00000514809.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1820,
"cds_start": 779,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700115.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "ENST00000913657.1",
"protein_id": "ENSP00000583716.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1820,
"cds_start": 779,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913657.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.719delT",
"hgvs_p": "p.Leu240fs",
"transcript": "ENST00000700114.1",
"protein_id": "ENSP00000514808.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 1801,
"cds_start": 719,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700114.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "ENST00000965196.1",
"protein_id": "ENSP00000635255.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1770,
"cds_start": 779,
"cds_end": null,
"cds_length": 5313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965196.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "ENST00000913659.1",
"protein_id": "ENSP00000583718.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1769,
"cds_start": 779,
"cds_end": null,
"cds_length": 5310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913659.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "ENST00000913660.1",
"protein_id": "ENSP00000583719.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1763,
"cds_start": 779,
"cds_end": null,
"cds_length": 5292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913660.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "ENST00000913658.1",
"protein_id": "ENSP00000583717.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1758,
"cds_start": 779,
"cds_end": null,
"cds_length": 5277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913658.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "XM_005248729.6",
"protein_id": "XP_005248786.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1820,
"cds_start": 779,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248729.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.263delT",
"hgvs_p": "p.Leu88fs",
"transcript": "XM_011535918.4",
"protein_id": "XP_011534220.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1649,
"cds_start": 263,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535918.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs",
"transcript": "XM_011535919.2",
"protein_id": "XP_011534221.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 1001,
"cds_start": 779,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535919.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "n.797delT",
"hgvs_p": null,
"transcript": "ENST00000700012.1",
"protein_id": "ENSP00000514753.1",
"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": "ENST00000700012.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "n.*590delT",
"hgvs_p": null,
"transcript": "ENST00000700119.1",
"protein_id": "ENSP00000514811.1",
"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": "ENST00000700119.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"hgvs_c": "n.*590delT",
"hgvs_p": null,
"transcript": "ENST00000700119.1",
"protein_id": "ENSP00000514811.1",
"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": "ENST00000700119.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298699",
"gene_hgnc_id": null,
"hgvs_c": "n.189+21286delA",
"hgvs_p": null,
"transcript": "ENST00000757453.1",
"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": "ENST00000757453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124901346",
"gene_hgnc_id": null,
"hgvs_c": "n.851+21286delA",
"hgvs_p": null,
"transcript": "XR_007059652.1",
"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": "XR_007059652.1"
}
],
"gene_symbol": "PHIP",
"gene_hgnc_id": 15673,
"dbsnp": "rs878854421",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.325,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_017934.7",
"gene_symbol": "PHIP",
"hgnc_id": 15673,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.779delT",
"hgvs_p": "p.Leu260fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000757453.1",
"gene_symbol": "ENSG00000298699",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.189+21286delA",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007059652.1",
"gene_symbol": "LOC124901346",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.851+21286delA",
"hgvs_p": null
}
],
"clinvar_disease": "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided|PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}