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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: 7-31577950-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=31577950&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITPRID1",
"hgnc_id": 27363,
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_194300.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.101,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05309492349624634,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6938,
"cdna_start": 814,
"cds_end": null,
"cds_length": 3135,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001257967.3",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000615280.5",
"protein_coding": true,
"protein_id": "NP_001244896.2",
"strand": true,
"transcript": "NM_001257967.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6938,
"cdna_start": 814,
"cds_end": null,
"cds_length": 3135,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000615280.5",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001257967.3",
"protein_coding": true,
"protein_id": "ENSP00000478518.2",
"strand": true,
"transcript": "ENST00000615280.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 724,
"cds_end": null,
"cds_length": 3135,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000407970.7",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384416.3",
"strand": true,
"transcript": "ENST00000407970.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6845,
"cdna_start": 721,
"cds_end": null,
"cds_length": 3135,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_194300.5",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_919276.2",
"strand": true,
"transcript": "NM_194300.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 821,
"cds_end": null,
"cds_length": 3135,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888409.1",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558468.1",
"strand": true,
"transcript": "ENST00000888409.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 895,
"cds_end": null,
"cds_length": 3135,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000888410.1",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558469.1",
"strand": true,
"transcript": "ENST00000888410.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 776,
"cds_end": null,
"cds_length": 3111,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001257968.3",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244897.2",
"strand": true,
"transcript": "NM_001257968.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 952,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2859,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409210.1",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.410C>G",
"hgvs_p": "p.Ala137Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387214.1",
"strand": true,
"transcript": "ENST00000409210.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 896,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 2691,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000319386.7",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313062.3",
"strand": true,
"transcript": "ENST00000319386.7",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6949,
"cdna_start": 825,
"cds_end": null,
"cds_length": 3135,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011515213.3",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513515.1",
"strand": true,
"transcript": "XM_011515213.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6945,
"cdna_start": 821,
"cds_end": null,
"cds_length": 3135,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017011871.3",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867360.1",
"strand": true,
"transcript": "XM_017011871.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6946,
"cdna_start": 825,
"cds_end": null,
"cds_length": 3132,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017011872.3",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ala229Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867361.1",
"strand": true,
"transcript": "XM_017011872.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 952,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7512,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 2859,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_024446692.2",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "c.410C>G",
"hgvs_p": "p.Ala137Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302460.1",
"strand": true,
"transcript": "XM_024446692.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7142,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_047565.3",
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"hgvs_c": "n.1462C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_047565.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs752868206",
"effect": "missense_variant",
"frequency_reference_population": 0.0000041056182,
"gene_hgnc_id": 27363,
"gene_symbol": "ITPRID1",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000410562,
"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 specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.155,
"pos": 31577950,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.014,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_194300.5"
}
]
}