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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: X-85864663-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85864663&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 85864663,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_000390.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1929A>C",
"hgvs_p": "p.Thr643Thr",
"transcript": "NM_000390.4",
"protein_id": "NP_000381.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 653,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 5438,
"mane_select": "ENST00000357749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000390.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1929A>C",
"hgvs_p": "p.Thr643Thr",
"transcript": "ENST00000357749.7",
"protein_id": "ENSP00000350386.2",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 653,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 5438,
"mane_select": "NM_000390.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357749.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1926A>C",
"hgvs_p": "p.Thr642Thr",
"transcript": "ENST00000891168.1",
"protein_id": "ENSP00000561227.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 652,
"cds_start": 1926,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891168.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1914A>C",
"hgvs_p": "p.Thr638Thr",
"transcript": "ENST00000891170.1",
"protein_id": "ENSP00000561229.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 648,
"cds_start": 1914,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891170.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1851A>C",
"hgvs_p": "p.Thr617Thr",
"transcript": "ENST00000891169.1",
"protein_id": "ENSP00000561228.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 627,
"cds_start": 1851,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891169.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1785A>C",
"hgvs_p": "p.Thr595Thr",
"transcript": "ENST00000913025.1",
"protein_id": "ENSP00000583084.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 605,
"cds_start": 1785,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913025.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1731A>C",
"hgvs_p": "p.Thr577Thr",
"transcript": "ENST00000891167.1",
"protein_id": "ENSP00000561226.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 587,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891167.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1485A>C",
"hgvs_p": "p.Thr495Thr",
"transcript": "NM_001320959.1",
"protein_id": "NP_001307888.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 505,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320959.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1485A>C",
"hgvs_p": "p.Thr495Thr",
"transcript": "NM_001362517.1",
"protein_id": "NP_001349446.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 505,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 5581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362517.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1485A>C",
"hgvs_p": "p.Thr495Thr",
"transcript": "NM_001362518.2",
"protein_id": "NP_001349447.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 505,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362518.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1485A>C",
"hgvs_p": "p.Thr495Thr",
"transcript": "NM_001362519.1",
"protein_id": "NP_001349448.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 505,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362519.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.879A>C",
"hgvs_p": "p.Thr293Thr",
"transcript": "ENST00000913026.1",
"protein_id": "ENSP00000583085.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 303,
"cds_start": 879,
"cds_end": null,
"cds_length": 912,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913026.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1485A>C",
"hgvs_p": "p.Thr495Thr",
"transcript": "XM_047441793.1",
"protein_id": "XP_047297749.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 505,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 5522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441793.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1485A>C",
"hgvs_p": "p.Thr495Thr",
"transcript": "XM_047441794.1",
"protein_id": "XP_047297750.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 505,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441794.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "n.127-1569A>C",
"hgvs_p": null,
"transcript": "ENST00000467744.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467744.2"
}
],
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"dbsnp": "rs747278560",
"frequency_reference_population": 0.00010756888,
"hom_count_reference_population": 43,
"allele_count_reference_population": 130,
"gnomad_exomes_af": 0.00011761,
"gnomad_genomes_af": 0.00000895432,
"gnomad_exomes_ac": 129,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"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": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.807,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000390.4",
"gene_symbol": "CHM",
"hgnc_id": 1940,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1929A>C",
"hgvs_p": "p.Thr643Thr"
}
],
"clinvar_disease": "Choroideremia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|Choroideremia",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}