← Back to variant description
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: 10-89611948-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89611948&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 89611948,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_148977.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.393G>T",
"hgvs_p": "p.Glu131Asp",
"transcript": "NM_148977.3",
"protein_id": "NP_683878.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 461,
"cds_start": 393,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307534.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148977.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.393G>T",
"hgvs_p": "p.Glu131Asp",
"transcript": "ENST00000307534.10",
"protein_id": "ENSP00000302108.5",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 461,
"cds_start": 393,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_148977.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307534.10"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.129G>T",
"hgvs_p": "p.Glu43Asp",
"transcript": "ENST00000342512.4",
"protein_id": "ENSP00000345118.3",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 373,
"cds_start": 129,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342512.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.129G>T",
"hgvs_p": "p.Glu43Asp",
"transcript": "ENST00000322191.10",
"protein_id": "ENSP00000318526.6",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 314,
"cds_start": 129,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322191.10"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.393G>T",
"hgvs_p": "p.Glu131Asp",
"transcript": "ENST00000874690.1",
"protein_id": "ENSP00000544749.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 393,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874690.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.129G>T",
"hgvs_p": "p.Glu43Asp",
"transcript": "NM_148978.3",
"protein_id": "NP_683879.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 373,
"cds_start": 129,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148978.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.129G>T",
"hgvs_p": "p.Glu43Asp",
"transcript": "NM_138316.4",
"protein_id": "NP_612189.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 314,
"cds_start": 129,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138316.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.210G>T",
"hgvs_p": "p.Glu70Asp",
"transcript": "XM_017016333.3",
"protein_id": "XP_016871822.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 400,
"cds_start": 210,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016333.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.174G>T",
"hgvs_p": "p.Glu58Asp",
"transcript": "XM_017016334.2",
"protein_id": "XP_016871823.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 388,
"cds_start": 174,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016334.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.123G>T",
"hgvs_p": "p.Glu41Asp",
"transcript": "XM_047425354.1",
"protein_id": "XP_047281310.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 371,
"cds_start": 123,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425354.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "c.117G>T",
"hgvs_p": "p.Glu39Asp",
"transcript": "XM_017016336.2",
"protein_id": "XP_016871825.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 369,
"cds_start": 117,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016336.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"hgvs_c": "n.-40G>T",
"hgvs_p": null,
"transcript": "ENST00000461829.1",
"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": "pseudogene",
"feature": "ENST00000461829.1"
}
],
"gene_symbol": "PANK1",
"gene_hgnc_id": 8598,
"dbsnp": "rs1013737590",
"frequency_reference_population": 0.0000027362476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273625,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38060274720191956,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.558,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.341,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.101,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_148977.3",
"gene_symbol": "PANK1",
"hgnc_id": 8598,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.393G>T",
"hgvs_p": "p.Glu131Asp"
}
],
"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
}