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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: 7-711357-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=711357&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 711357,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000537384.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "NM_001164760.2",
"protein_id": "NP_001158232.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "ENST00000537384.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "ENST00000537384.6",
"protein_id": "ENSP00000440449.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": "NM_001164760.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "ENST00000360274.8",
"protein_id": "ENSP00000353415.4",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "ENST00000403562.5",
"protein_id": "ENSP00000385349.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "ENST00000406797.5",
"protein_id": "ENSP00000385749.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "NM_001164758.2",
"protein_id": "NP_001158230.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "NM_001164759.1",
"protein_id": "NP_001158231.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "NM_001164761.2",
"protein_id": "NP_001158233.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "NM_001164762.2",
"protein_id": "NP_001158234.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "NM_002735.3",
"protein_id": "NP_002726.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "ENST00000544935.5",
"protein_id": "ENSP00000444487.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "ENST00000430040.5",
"protein_id": "ENSP00000402648.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 296,
"cds_start": 149,
"cds_end": null,
"cds_length": 891,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "ENST00000417852.5",
"protein_id": "ENSP00000406670.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 164,
"cds_start": 149,
"cds_end": null,
"cds_length": 497,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "ENST00000456696.2",
"protein_id": "ENSP00000410414.2",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 115,
"cds_start": 149,
"cds_end": null,
"cds_length": 348,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "XM_047420607.1",
"protein_id": "XP_047276563.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg",
"transcript": "XM_047420608.1",
"protein_id": "XP_047276564.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 381,
"cds_start": 149,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 2420,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "n.199T>G",
"hgvs_p": null,
"transcript": "ENST00000488474.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 617,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "n.196T>G",
"hgvs_p": null,
"transcript": "ENST00000703505.1",
"protein_id": null,
"transcript_support_level": null,
"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": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"dbsnp": "rs1057519490",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8879843950271606,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.904,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9939,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.605,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000537384.6",
"gene_symbol": "PRKAR1B",
"hgnc_id": 9390,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.149T>G",
"hgvs_p": "p.Leu50Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}