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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: 2-46613771-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=46613771&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 46613771,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002643.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Leu81Leu",
"transcript": "NM_002643.4",
"protein_id": "NP_002634.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 219,
"cds_start": 243,
"cds_end": null,
"cds_length": 660,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": "ENST00000281382.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Leu81Leu",
"transcript": "ENST00000281382.11",
"protein_id": "ENSP00000281382.6",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 219,
"cds_start": 243,
"cds_end": null,
"cds_length": 660,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": "NM_002643.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Leu81Leu",
"transcript": "ENST00000306465.8",
"protein_id": "ENSP00000302663.4",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 206,
"cds_start": 243,
"cds_end": null,
"cds_length": 621,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 1061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Leu81Leu",
"transcript": "NM_173074.3",
"protein_id": "NP_775097.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 206,
"cds_start": 243,
"cds_end": null,
"cds_length": 621,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Leu81Leu",
"transcript": "XM_011532908.4",
"protein_id": "XP_011531210.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 227,
"cds_start": 243,
"cds_end": null,
"cds_length": 684,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Leu81Leu",
"transcript": "XM_005264369.4",
"protein_id": "XP_005264426.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 187,
"cds_start": 243,
"cds_end": null,
"cds_length": 564,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1418,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "n.243G>A",
"hgvs_p": null,
"transcript": "ENST00000420164.6",
"protein_id": "ENSP00000410361.2",
"transcript_support_level": 5,
"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": 997,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "n.3260G>A",
"hgvs_p": null,
"transcript": "ENST00000495933.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"hgvs_c": "n.228+1166G>A",
"hgvs_p": null,
"transcript": "ENST00000412717.1",
"protein_id": "ENSP00000413202.1",
"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": 737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIGF",
"gene_hgnc_id": 8962,
"dbsnp": "rs1222650814",
"frequency_reference_population": 7.1202857e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.12029e-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": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.116,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002643.4",
"gene_symbol": "PIGF",
"hgnc_id": 8962,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Leu81Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}