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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: 12-6867575-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6867575&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6867575,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001159287.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "NM_000365.6",
"protein_id": "NP_000356.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 249,
"cds_start": 9,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396705.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000365.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000396705.10",
"protein_id": "ENSP00000379933.4",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 249,
"cds_start": 9,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000365.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396705.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.120C>G",
"hgvs_p": "p.Pro40Pro",
"transcript": "ENST00000229270.8",
"protein_id": "ENSP00000229270.4",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 286,
"cds_start": 120,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229270.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.120C>G",
"hgvs_p": "p.Pro40Pro",
"transcript": "ENST00000613953.4",
"protein_id": "ENSP00000484435.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 286,
"cds_start": 120,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613953.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.120C>G",
"hgvs_p": "p.Pro40Pro",
"transcript": "NM_001159287.1",
"protein_id": "NP_001152759.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 286,
"cds_start": 120,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159287.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000854164.1",
"protein_id": "ENSP00000524223.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 254,
"cds_start": 9,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854164.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000854165.1",
"protein_id": "ENSP00000524224.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 247,
"cds_start": 9,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854165.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000854166.1",
"protein_id": "ENSP00000524225.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 245,
"cds_start": 9,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854166.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000934760.1",
"protein_id": "ENSP00000604819.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 244,
"cds_start": 9,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934760.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000948630.1",
"protein_id": "ENSP00000618689.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 243,
"cds_start": 9,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948630.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000854169.1",
"protein_id": "ENSP00000524228.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 235,
"cds_start": 9,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854169.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000854168.1",
"protein_id": "ENSP00000524227.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 231,
"cds_start": 9,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854168.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000934762.1",
"protein_id": "ENSP00000604821.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 226,
"cds_start": 9,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934762.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000854167.1",
"protein_id": "ENSP00000524226.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 210,
"cds_start": 9,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854167.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000948631.1",
"protein_id": "ENSP00000618690.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 204,
"cds_start": 9,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948631.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"hgvs_c": "c.9C>G",
"hgvs_p": "p.Pro3Pro",
"transcript": "ENST00000934761.1",
"protein_id": "ENSP00000604820.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 135,
"cds_start": 9,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934761.1"
}
],
"gene_symbol": "TPI1",
"gene_hgnc_id": 12009,
"dbsnp": "rs958568125",
"frequency_reference_population": 0.0000041086605,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410866,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.45,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001159287.1",
"gene_symbol": "TPI1",
"hgnc_id": 12009,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.120C>G",
"hgvs_p": "p.Pro40Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}