← 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: 7-93426422-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=93426422&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 93426422,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001742.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "c.1358delA",
"hgvs_p": "p.Asn453fs",
"transcript": "NM_001742.4",
"protein_id": "NP_001733.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 474,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "ENST00000426151.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "c.1358delA",
"hgvs_p": "p.Asn453fs",
"transcript": "ENST00000426151.7",
"protein_id": "ENSP00000389295.1",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 474,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "NM_001742.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "c.1358delA",
"hgvs_p": "p.Asn453fs",
"transcript": "ENST00000394441.5",
"protein_id": "ENSP00000377959.1",
"transcript_support_level": 1,
"aa_start": 453,
"aa_end": null,
"aa_length": 474,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "n.*583delA",
"hgvs_p": null,
"transcript": "ENST00000415529.2",
"protein_id": "ENSP00000413179.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "n.*583delA",
"hgvs_p": null,
"transcript": "ENST00000423724.5",
"protein_id": "ENSP00000391369.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "n.*583delA",
"hgvs_p": null,
"transcript": "ENST00000415529.2",
"protein_id": "ENSP00000413179.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "n.*583delA",
"hgvs_p": null,
"transcript": "ENST00000423724.5",
"protein_id": "ENSP00000391369.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "c.1406delA",
"hgvs_p": "p.Asn469fs",
"transcript": "NM_001164737.3",
"protein_id": "NP_001158209.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 490,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "c.1406delA",
"hgvs_p": "p.Asn469fs",
"transcript": "ENST00000649521.1",
"protein_id": "ENSP00000497687.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 490,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"hgvs_c": "c.1358delA",
"hgvs_p": "p.Asn453fs",
"transcript": "NM_001164738.2",
"protein_id": "NP_001158210.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 474,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CALCR",
"gene_hgnc_id": 1440,
"dbsnp": "rs753161420",
"frequency_reference_population": 0.00037857806,
"hom_count_reference_population": 0,
"allele_count_reference_population": 611,
"gnomad_exomes_af": 0.000394755,
"gnomad_genomes_af": 0.000223291,
"gnomad_exomes_ac": 577,
"gnomad_genomes_ac": 34,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 0.378,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001742.4",
"gene_symbol": "CALCR",
"hgnc_id": 1440,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1358delA",
"hgvs_p": "p.Asn453fs"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}