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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-85864643-TC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85864643&ref=TC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 85864643,
"ref": "TC",
"alt": "GA",
"effect": "missense_variant",
"transcript": "NM_000390.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1948_1949delGAinsTC",
"hgvs_p": "p.Glu650Ser",
"transcript": "NM_000390.4",
"protein_id": "NP_000381.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 653,
"cds_start": 1948,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357749.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000390.4"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1948_1949delGAinsTC",
"hgvs_p": "p.Glu650Ser",
"transcript": "ENST00000357749.7",
"protein_id": "ENSP00000350386.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 653,
"cds_start": 1948,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000390.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357749.7"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1945_1946delGAinsTC",
"hgvs_p": "p.Glu649Ser",
"transcript": "ENST00000891168.1",
"protein_id": "ENSP00000561227.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 652,
"cds_start": 1945,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891168.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1933_1934delGAinsTC",
"hgvs_p": "p.Glu645Ser",
"transcript": "ENST00000891170.1",
"protein_id": "ENSP00000561229.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 648,
"cds_start": 1933,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891170.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1870_1871delGAinsTC",
"hgvs_p": "p.Glu624Ser",
"transcript": "ENST00000891169.1",
"protein_id": "ENSP00000561228.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 627,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891169.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1804_1805delGAinsTC",
"hgvs_p": "p.Glu602Ser",
"transcript": "ENST00000913025.1",
"protein_id": "ENSP00000583084.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 605,
"cds_start": 1804,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913025.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1750_1751delGAinsTC",
"hgvs_p": "p.Glu584Ser",
"transcript": "ENST00000891167.1",
"protein_id": "ENSP00000561226.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 587,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891167.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1504_1505delGAinsTC",
"hgvs_p": "p.Glu502Ser",
"transcript": "NM_001320959.1",
"protein_id": "NP_001307888.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320959.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1504_1505delGAinsTC",
"hgvs_p": "p.Glu502Ser",
"transcript": "NM_001362517.1",
"protein_id": "NP_001349446.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362517.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1504_1505delGAinsTC",
"hgvs_p": "p.Glu502Ser",
"transcript": "NM_001362518.2",
"protein_id": "NP_001349447.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362518.2"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1504_1505delGAinsTC",
"hgvs_p": "p.Glu502Ser",
"transcript": "NM_001362519.1",
"protein_id": "NP_001349448.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362519.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.898_899delGAinsTC",
"hgvs_p": "p.Glu300Ser",
"transcript": "ENST00000913026.1",
"protein_id": "ENSP00000583085.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 303,
"cds_start": 898,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913026.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1504_1505delGAinsTC",
"hgvs_p": "p.Glu502Ser",
"transcript": "XM_047441793.1",
"protein_id": "XP_047297749.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441793.1"
},
{
"aa_ref": "E",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"hgvs_c": "c.1504_1505delGAinsTC",
"hgvs_p": "p.Glu502Ser",
"transcript": "XM_047441794.1",
"protein_id": "XP_047297750.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.127-1550_127-1549delGAinsTC",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467744.2"
}
],
"gene_symbol": "CHM",
"gene_hgnc_id": 1940,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.427,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_000390.4",
"gene_symbol": "CHM",
"hgnc_id": 1940,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1948_1949delGAinsTC",
"hgvs_p": "p.Glu650Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}