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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: 8-143969375-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143969375&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143969375,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_000445.5",
"consequences": [
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.70+4028T>C",
"hgvs_p": null,
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4533,
"cds_start": null,
"cds_end": null,
"cds_length": 13602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": "protein_coding",
"feature": "NM_201378.4"
},
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.70+4028T>C",
"hgvs_p": null,
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4533,
"cds_start": null,
"cds_end": null,
"cds_length": 13602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": "protein_coding",
"feature": "ENST00000356346.7"
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null,
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 4574,
"cds_start": null,
"cds_end": null,
"cds_length": 13725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436759.6"
},
{
"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": 34,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null,
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4591,
"cds_start": null,
"cds_end": null,
"cds_length": 13776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528025.6"
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null,
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4574,
"cds_start": null,
"cds_end": null,
"cds_length": 13725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000445.5"
},
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null,
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4570,
"cds_start": null,
"cds_end": null,
"cds_length": 13713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527096.5"
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null,
"transcript": "NM_001410941.1",
"protein_id": "NP_001397870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3447,
"cds_start": null,
"cds_end": null,
"cds_length": 10344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410941.1"
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null,
"transcript": "ENST00000527303.2",
"protein_id": "ENSP00000433982.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 3447,
"cds_start": null,
"cds_end": null,
"cds_length": 10344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527303.2"
},
{
"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": 34,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null,
"transcript": "XM_006716588.4",
"protein_id": "XP_006716651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4579,
"cds_start": null,
"cds_end": null,
"cds_length": 13740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716588.4"
},
{
"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": 33,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null,
"transcript": "XM_047421872.1",
"protein_id": "XP_047277828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4570,
"cds_start": null,
"cds_end": null,
"cds_length": 13713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421872.1"
},
{
"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": 33,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.70+4028T>C",
"hgvs_p": null,
"transcript": "XM_005250981.4",
"protein_id": "XP_005251038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4538,
"cds_start": null,
"cds_end": null,
"cds_length": 13617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250981.4"
},
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.70+4028T>C",
"hgvs_p": null,
"transcript": "XM_047421875.1",
"protein_id": "XP_047277831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4529,
"cds_start": null,
"cds_end": null,
"cds_length": 13590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421875.1"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.70+4028T>C",
"hgvs_p": null,
"transcript": "XM_047421889.1",
"protein_id": "XP_047277845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3406,
"cds_start": null,
"cds_end": null,
"cds_length": 10221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421889.1"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.70+4028T>C",
"hgvs_p": null,
"transcript": "XM_047421890.1",
"protein_id": "XP_047277846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3402,
"cds_start": null,
"cds_end": null,
"cds_length": 10209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421890.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "n.43+5802T>C",
"hgvs_p": null,
"transcript": "ENST00000532346.1",
"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": "retained_intron",
"feature": "ENST00000532346.1"
}
],
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"dbsnp": "rs11136341",
"frequency_reference_population": 0.39730638,
"hom_count_reference_population": 12642,
"allele_count_reference_population": 60416,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.397306,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 60416,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 12642,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.03,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.522,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000445.5",
"gene_symbol": "PLEC",
"hgnc_id": 9069,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.193+5802T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}