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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: 2-160028931-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=160028931&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 160028931,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000283243.13",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "NM_007366.5",
"protein_id": "NP_031392.3",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1463,
"cds_start": 874,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 14376,
"mane_select": "ENST00000283243.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "ENST00000283243.13",
"protein_id": "ENSP00000283243.7",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 1463,
"cds_start": 874,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 14376,
"mane_select": "NM_007366.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "ENST00000392771.1",
"protein_id": "ENSP00000376524.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 1324,
"cds_start": 874,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "NM_001195641.2",
"protein_id": "NP_001182570.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1461,
"cds_start": 874,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 14370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "NM_001007267.3",
"protein_id": "NP_001007268.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1324,
"cds_start": 874,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "XM_005246392.5",
"protein_id": "XP_005246449.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1463,
"cds_start": 874,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 8905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "XM_011510820.4",
"protein_id": "XP_011509122.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1463,
"cds_start": 874,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 8551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "XM_017003598.2",
"protein_id": "XP_016859087.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1463,
"cds_start": 874,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "XM_047443729.1",
"protein_id": "XP_047299685.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1463,
"cds_start": 874,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 5847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "XM_047443730.1",
"protein_id": "XP_047299686.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1461,
"cds_start": 874,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 8899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "XM_017003599.2",
"protein_id": "XP_016859088.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1383,
"cds_start": 874,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "XM_047443731.1",
"protein_id": "XP_047299687.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1014,
"cds_start": 874,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 3354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu",
"transcript": "XM_017003601.3",
"protein_id": "XP_016859090.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 795,
"cds_start": 874,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2694,
"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": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.1086A>T",
"hgvs_p": null,
"transcript": "XR_001738671.3",
"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": 9613,
"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": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.1086A>T",
"hgvs_p": null,
"transcript": "XR_001738672.3",
"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": 9095,
"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": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.1086A>T",
"hgvs_p": null,
"transcript": "XR_007071491.1",
"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": 8741,
"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": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.1086A>T",
"hgvs_p": null,
"transcript": "XR_007071492.1",
"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": 16373,
"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": 5,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"hgvs_c": "n.1086A>T",
"hgvs_p": null,
"transcript": "XR_922892.4",
"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": 8976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLA2R1",
"gene_hgnc_id": 9042,
"dbsnp": "rs3749117",
"frequency_reference_population": 6.884416e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88442e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3259957432746887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.1325,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.207,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000283243.13",
"gene_symbol": "PLA2R1",
"hgnc_id": 9042,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.874A>T",
"hgvs_p": "p.Met292Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}