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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: 7-99967148-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99967148&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99967148,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001185.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.752G>T",
"hgvs_p": "p.Arg251Leu",
"transcript": "NM_001185.4",
"protein_id": "NP_001176.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 298,
"cds_start": 752,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292401.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.752G>T",
"hgvs_p": "p.Arg251Leu",
"transcript": "ENST00000292401.9",
"protein_id": "ENSP00000292401.4",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 298,
"cds_start": 752,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001185.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292401.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.*927G>T",
"hgvs_p": null,
"transcript": "ENST00000411734.1",
"protein_id": "ENSP00000396093.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": null,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411734.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.839G>T",
"hgvs_p": "p.Arg280Leu",
"transcript": "ENST00000868286.1",
"protein_id": "ENSP00000538345.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 327,
"cds_start": 839,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868286.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.782G>T",
"hgvs_p": "p.Arg261Leu",
"transcript": "ENST00000868291.1",
"protein_id": "ENSP00000538350.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 308,
"cds_start": 782,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868291.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.746G>T",
"hgvs_p": "p.Arg249Leu",
"transcript": "ENST00000868292.1",
"protein_id": "ENSP00000538351.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 296,
"cds_start": 746,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868292.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.641G>T",
"hgvs_p": "p.Arg214Leu",
"transcript": "ENST00000868290.1",
"protein_id": "ENSP00000538349.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 261,
"cds_start": 641,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868290.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Arg211Leu",
"transcript": "ENST00000868289.1",
"protein_id": "ENSP00000538348.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 258,
"cds_start": 632,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868289.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.611G>T",
"hgvs_p": "p.Arg204Leu",
"transcript": "ENST00000868287.1",
"protein_id": "ENSP00000538346.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 251,
"cds_start": 611,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868287.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "ENST00000868283.1",
"protein_id": "ENSP00000538342.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 250,
"cds_start": 608,
"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": "ENST00000868283.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.584G>T",
"hgvs_p": "p.Arg195Leu",
"transcript": "ENST00000868282.1",
"protein_id": "ENSP00000538341.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 242,
"cds_start": 584,
"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": "ENST00000868282.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.491G>T",
"hgvs_p": "p.Arg164Leu",
"transcript": "ENST00000868285.1",
"protein_id": "ENSP00000538344.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 211,
"cds_start": 491,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868285.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.476G>T",
"hgvs_p": "p.Arg159Leu",
"transcript": "ENST00000868284.1",
"protein_id": "ENSP00000538343.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 206,
"cds_start": 476,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868284.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.*45G>T",
"hgvs_p": null,
"transcript": "ENST00000419575.1",
"protein_id": "ENSP00000389942.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": null,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "c.508-137G>T",
"hgvs_p": null,
"transcript": "ENST00000868288.1",
"protein_id": "ENSP00000538347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "n.748G>T",
"hgvs_p": null,
"transcript": "ENST00000477251.1",
"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": "retained_intron",
"feature": "ENST00000477251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"hgvs_c": "n.251G>T",
"hgvs_p": null,
"transcript": "ENST00000483612.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000483612.1"
}
],
"gene_symbol": "AZGP1",
"gene_hgnc_id": 910,
"dbsnp": "rs751369711",
"frequency_reference_population": 0.0000013680976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08195307850837708,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.1237,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.289,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001185.4",
"gene_symbol": "AZGP1",
"hgnc_id": 910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.752G>T",
"hgvs_p": "p.Arg251Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}