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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: 7-30922613-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30922613&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 30922613,
"ref": "CG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001329872.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.601delG",
"hgvs_p": "p.Val201fs",
"transcript": "NM_198098.4",
"protein_id": "NP_932766.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 269,
"cds_start": 601,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311813.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198098.4"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.601delG",
"hgvs_p": "p.Val201fs",
"transcript": "ENST00000311813.11",
"protein_id": "ENSP00000311165.4",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 269,
"cds_start": 601,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198098.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311813.11"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250424",
"gene_hgnc_id": null,
"hgvs_c": "c.1138delG",
"hgvs_p": "p.Val380fs",
"transcript": "ENST00000509504.2",
"protein_id": "ENSP00000421315.2",
"transcript_support_level": 5,
"aa_start": 380,
"aa_end": null,
"aa_length": 448,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509504.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.448delG",
"hgvs_p": "p.Val150fs",
"transcript": "ENST00000409611.1",
"protein_id": "ENSP00000387178.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 218,
"cds_start": 448,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409611.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.256delG",
"hgvs_p": "p.Val86fs",
"transcript": "ENST00000409899.5",
"protein_id": "ENSP00000386712.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 154,
"cds_start": 256,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409899.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "n.196-1266delG",
"hgvs_p": null,
"transcript": "ENST00000441328.7",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000441328.7"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.601delG",
"hgvs_p": "p.Val201fs",
"transcript": "NM_001329872.2",
"protein_id": "NP_001316801.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 323,
"cds_start": 601,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329872.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.628delG",
"hgvs_p": "p.Val210fs",
"transcript": "ENST00000873045.1",
"protein_id": "ENSP00000543104.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 278,
"cds_start": 628,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873045.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.601delG",
"hgvs_p": "p.Val201fs",
"transcript": "ENST00000652696.1",
"protein_id": "ENSP00000498672.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 269,
"cds_start": 601,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652696.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.388delG",
"hgvs_p": "p.Val130fs",
"transcript": "ENST00000652692.1",
"protein_id": "ENSP00000498806.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 198,
"cds_start": 388,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652692.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.37delG",
"hgvs_p": "p.Val13fs",
"transcript": "ENST00000651610.1",
"protein_id": "ENSP00000499196.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 135,
"cds_start": 37,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.549+385delG",
"hgvs_p": null,
"transcript": "ENST00000873043.1",
"protein_id": "ENSP00000543102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "c.385-835delG",
"hgvs_p": null,
"transcript": "ENST00000873044.1",
"protein_id": "ENSP00000543103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"hgvs_c": "n.318delG",
"hgvs_p": null,
"transcript": "ENST00000482461.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000482461.1"
}
],
"gene_symbol": "AQP1",
"gene_hgnc_id": 633,
"dbsnp": "rs199474670",
"frequency_reference_population": 0.000019206464,
"hom_count_reference_population": 1,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000171015,
"gnomad_genomes_af": 0.0000394275,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"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": -3.843,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001329872.2",
"gene_symbol": "AQP1",
"hgnc_id": 633,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.601delG",
"hgvs_p": "p.Val201fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000509504.2",
"gene_symbol": "ENSG00000250424",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1138delG",
"hgvs_p": "p.Val380fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}