← 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: 2-229026108-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=229026108&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 229026108,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001330156.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "NM_001100818.2",
"protein_id": "NP_001094288.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 217,
"cds_start": 178,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392055.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100818.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "ENST00000392055.8",
"protein_id": "ENSP00000375908.3",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 217,
"cds_start": 178,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001100818.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392055.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Val11Ile",
"transcript": "ENST00000409462.1",
"protein_id": "ENSP00000386826.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 168,
"cds_start": 31,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409462.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Ile",
"transcript": "NM_001330156.1",
"protein_id": "NP_001317085.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 250,
"cds_start": 277,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330156.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Ile",
"transcript": "ENST00000354069.6",
"protein_id": "ENSP00000283937.8",
"transcript_support_level": 3,
"aa_start": 93,
"aa_end": null,
"aa_length": 250,
"cds_start": 277,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354069.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Val91Ile",
"transcript": "NM_017933.5",
"protein_id": "NP_060403.3",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 248,
"cds_start": 271,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017933.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Val91Ile",
"transcript": "ENST00000392054.7",
"protein_id": "ENSP00000375907.3",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 248,
"cds_start": 271,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392054.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "ENST00000960981.1",
"protein_id": "ENSP00000631040.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 217,
"cds_start": 178,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960981.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Val46Ile",
"transcript": "NM_001330158.2",
"protein_id": "NP_001317087.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 203,
"cds_start": 136,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330158.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Val11Ile",
"transcript": "NM_001330157.2",
"protein_id": "NP_001317086.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 168,
"cds_start": 31,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330157.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Val148Ile",
"transcript": "XM_017004404.2",
"protein_id": "XP_016859893.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 305,
"cds_start": 442,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004404.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Val46Ile",
"transcript": "XM_047444845.1",
"protein_id": "XP_047300801.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 203,
"cds_start": 136,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "n.*159G>A",
"hgvs_p": null,
"transcript": "ENST00000534952.1",
"protein_id": "ENSP00000438228.1",
"transcript_support_level": 4,
"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": "ENST00000534952.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "n.*159G>A",
"hgvs_p": null,
"transcript": "ENST00000534952.1",
"protein_id": "ENSP00000438228.1",
"transcript_support_level": 4,
"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": "ENST00000534952.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"hgvs_c": "n.356+129710G>A",
"hgvs_p": null,
"transcript": "ENST00000482518.6",
"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": "ENST00000482518.6"
}
],
"gene_symbol": "PID1",
"gene_hgnc_id": 26084,
"dbsnp": "rs746316153",
"frequency_reference_population": 0.0000087023545,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000686538,
"gnomad_genomes_af": 0.0000262854,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33327943086624146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8640000224113464,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.4269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.221,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999264318013001,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330156.1",
"gene_symbol": "PID1",
"hgnc_id": 26084,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Ile"
}
],
"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
}