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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-54812204-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=54812204&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 54812204,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "ENST00000375068.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*",
"transcript": "NM_177433.3",
"protein_id": "NP_803182.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 606,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": "ENST00000375068.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*",
"transcript": "ENST00000375068.6",
"protein_id": "ENSP00000364209.1",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 606,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": "NM_177433.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*",
"transcript": "ENST00000375053.6",
"protein_id": "ENSP00000364193.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 606,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*",
"transcript": "ENST00000375058.5",
"protein_id": "ENSP00000364198.1",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 606,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*",
"transcript": "NM_014599.6",
"protein_id": "NP_055414.2",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 606,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*",
"transcript": "NM_201222.3",
"protein_id": "NP_957516.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 606,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*",
"transcript": "ENST00000218439.8",
"protein_id": "ENSP00000218439.4",
"transcript_support_level": 5,
"aa_start": 346,
"aa_end": null,
"aa_length": 606,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*",
"transcript": "ENST00000396224.1",
"protein_id": "ENSP00000379526.1",
"transcript_support_level": 5,
"aa_start": 346,
"aa_end": null,
"aa_length": 606,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.984C>G",
"hgvs_p": "p.Tyr328*",
"transcript": "ENST00000347546.8",
"protein_id": "ENSP00000336962.4",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 588,
"cds_start": 984,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.783C>G",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000375060.5",
"protein_id": "ENSP00000364200.1",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 521,
"cds_start": 783,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "c.783C>G",
"hgvs_p": "p.Tyr261*",
"transcript": "ENST00000627068.2",
"protein_id": "ENSP00000486563.1",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 521,
"cds_start": 783,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "n.32C>G",
"hgvs_p": null,
"transcript": "ENST00000487463.1",
"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": 376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"hgvs_c": "n.170C>G",
"hgvs_p": null,
"transcript": "ENST00000487482.5",
"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": 341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAGED2",
"gene_hgnc_id": 16353,
"dbsnp": "rs878854404",
"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": 0.5099999904632568,
"computational_prediction_selected": "Pathogenic",
"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": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.772,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000375068.6",
"gene_symbol": "MAGED2",
"hgnc_id": 16353,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Tyr346*"
}
],
"clinvar_disease": "Bartter disease type 5",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Bartter disease type 5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}