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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: 6-78940737-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=78940737&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PHIP",
"hgnc_id": 15673,
"hgvs_c": "c.5422C>T",
"hgvs_p": "p.Arg1808*",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_017934.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "IRAK1BP1",
"hgnc_id": 17368,
"hgvs_c": "n.*68-4671G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000606868.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.63,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1821,
"aa_ref": "R",
"aa_start": 1808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11926,
"cdna_start": 5608,
"cds_end": null,
"cds_length": 5466,
"cds_start": 5422,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_017934.7",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5422C>T",
"hgvs_p": "p.Arg1808*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000275034.5",
"protein_coding": true,
"protein_id": "NP_060404.4",
"strand": false,
"transcript": "NM_017934.7",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1821,
"aa_ref": "R",
"aa_start": 1808,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11926,
"cdna_start": 5608,
"cds_end": null,
"cds_length": 5466,
"cds_start": 5422,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000275034.5",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5422C>T",
"hgvs_p": "p.Arg1808*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017934.7",
"protein_coding": true,
"protein_id": "ENSP00000275034.3",
"strand": false,
"transcript": "ENST00000275034.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000479165.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "n.5503C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479165.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000606868.5",
"gene_hgnc_id": 17368,
"gene_symbol": "IRAK1BP1",
"hgvs_c": "n.*68-4671G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000475570.1",
"strand": true,
"transcript": "ENST00000606868.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "R",
"aa_start": 1821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5809,
"cdna_start": 5662,
"cds_end": null,
"cds_length": 5505,
"cds_start": 5461,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000700118.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5461C>T",
"hgvs_p": "p.Arg1821*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514810.1",
"strand": false,
"transcript": "ENST00000700118.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1827,
"aa_ref": "R",
"aa_start": 1814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5722,
"cdna_start": 5575,
"cds_end": null,
"cds_length": 5484,
"cds_start": 5440,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000700013.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5440C>T",
"hgvs_p": "p.Arg1814*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514754.1",
"strand": false,
"transcript": "ENST00000700013.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1820,
"aa_ref": "R",
"aa_start": 1807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": 5573,
"cds_end": null,
"cds_length": 5463,
"cds_start": 5419,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000700115.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5419C>T",
"hgvs_p": "p.Arg1807*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514809.1",
"strand": false,
"transcript": "ENST00000700115.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1820,
"aa_ref": "R",
"aa_start": 1807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7696,
"cdna_start": 5895,
"cds_end": null,
"cds_length": 5463,
"cds_start": 5419,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000913657.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5419C>T",
"hgvs_p": "p.Arg1807*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583716.1",
"strand": false,
"transcript": "ENST00000913657.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1801,
"aa_ref": "R",
"aa_start": 1788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10242,
"cdna_start": 5405,
"cds_end": null,
"cds_length": 5406,
"cds_start": 5362,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000700114.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5362C>T",
"hgvs_p": "p.Arg1788*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514808.1",
"strand": false,
"transcript": "ENST00000700114.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "R",
"aa_start": 1757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5579,
"cdna_start": 5413,
"cds_end": null,
"cds_length": 5313,
"cds_start": 5269,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000965196.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5269C>T",
"hgvs_p": "p.Arg1757*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635255.1",
"strand": false,
"transcript": "ENST00000965196.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1769,
"aa_ref": "R",
"aa_start": 1756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5643,
"cdna_start": 5451,
"cds_end": null,
"cds_length": 5310,
"cds_start": 5266,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000913659.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5266C>T",
"hgvs_p": "p.Arg1756*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583718.1",
"strand": false,
"transcript": "ENST00000913659.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1763,
"aa_ref": "R",
"aa_start": 1750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5546,
"cdna_start": 5382,
"cds_end": null,
"cds_length": 5292,
"cds_start": 5248,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000913660.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5248C>T",
"hgvs_p": "p.Arg1750*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583719.1",
"strand": false,
"transcript": "ENST00000913660.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1758,
"aa_ref": "R",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5652,
"cdna_start": 5460,
"cds_end": null,
"cds_length": 5277,
"cds_start": 5233,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000913658.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5233C>T",
"hgvs_p": "p.Arg1745*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583717.1",
"strand": false,
"transcript": "ENST00000913658.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1820,
"aa_ref": "R",
"aa_start": 1807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11923,
"cdna_start": 5605,
"cds_end": null,
"cds_length": 5463,
"cds_start": 5419,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "XM_005248729.6",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.5419C>T",
"hgvs_p": "p.Arg1807*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248786.1",
"strand": false,
"transcript": "XM_005248729.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "R",
"aa_start": 1636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16905,
"cdna_start": 10587,
"cds_end": null,
"cds_length": 4950,
"cds_start": 4906,
"consequences": [
"stop_gained"
],
"exon_count": 37,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_011535918.4",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "c.4906C>T",
"hgvs_p": "p.Arg1636*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534220.1",
"strand": false,
"transcript": "XM_011535918.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": null,
"cds_end": null,
"cds_length": 453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047418194.1",
"gene_hgnc_id": 17368,
"gene_symbol": "IRAK1BP1",
"hgvs_c": "c.*37+5168G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274150.1",
"strand": true,
"transcript": "XM_047418194.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000700116.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "n.3621C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000700116.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700170.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "n.2021C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000700170.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700171.1",
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"hgvs_c": "n.*1109C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514839.1",
"strand": true,
"transcript": "ENST00000700171.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2127677234",
"effect": "stop_gained",
"frequency_reference_population": 6.8459576e-7,
"gene_hgnc_id": 15673,
"gene_symbol": "PHIP",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84596e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"pos": 78940737,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017934.7"
}
]
}