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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-14020281-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=14020281&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 14020281,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001042479.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "NM_001042479.2",
"protein_id": "NP_001035944.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 729,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": "ENST00000680255.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "ENST00000680255.1",
"protein_id": "ENSP00000505429.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 729,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": "NM_001042479.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "ENST00000398355.7",
"protein_id": "ENSP00000381398.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 729,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.-95C>G",
"hgvs_p": null,
"transcript": "ENST00000850642.1",
"protein_id": "ENSP00000520921.1",
"transcript_support_level": null,
"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": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "NM_001042480.2",
"protein_id": "NP_001035945.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 729,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "NM_017856.3",
"protein_id": "NP_060326.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 729,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "ENST00000380523.8",
"protein_id": "ENSP00000369895.4",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 729,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "ENST00000477386.2",
"protein_id": "ENSP00000505279.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 729,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "ENST00000332885.7",
"protein_id": "ENSP00000369894.2",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 176,
"cds_start": 269,
"cds_end": null,
"cds_length": 531,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.572C>G",
"hgvs_p": "p.Ser191Cys",
"transcript": "XM_005274555.4",
"protein_id": "XP_005274612.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 343,
"cds_start": 572,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 4055,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys",
"transcript": "XM_047442230.1",
"protein_id": "XP_047298186.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 242,
"cds_start": 269,
"cds_end": null,
"cds_length": 729,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2134,
"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": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.307C>G",
"hgvs_p": null,
"transcript": "ENST00000460203.1",
"protein_id": null,
"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": 839,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.-95C>G",
"hgvs_p": null,
"transcript": "ENST00000850642.1",
"protein_id": "ENSP00000520921.1",
"transcript_support_level": null,
"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": 1733,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.500C>G",
"hgvs_p": null,
"transcript": "XR_001755702.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3206,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.500C>G",
"hgvs_p": null,
"transcript": "XR_001755703.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3178,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.500C>G",
"hgvs_p": null,
"transcript": "XR_007068192.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1888,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.4055C>G",
"hgvs_p": null,
"transcript": "XR_950464.4",
"protein_id": null,
"transcript_support_level": null,
"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": 7413,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.4055C>G",
"hgvs_p": null,
"transcript": "XR_950466.4",
"protein_id": null,
"transcript_support_level": null,
"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": 5272,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.4055C>G",
"hgvs_p": null,
"transcript": "XR_950467.4",
"protein_id": null,
"transcript_support_level": null,
"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": 6733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"hgvs_c": "n.-95C>G",
"hgvs_p": null,
"transcript": "ENST00000850642.1",
"protein_id": "ENSP00000520921.1",
"transcript_support_level": null,
"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": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GEMIN8",
"gene_hgnc_id": 26044,
"dbsnp": "rs1924217058",
"frequency_reference_population": 9.1169835e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.11698e-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": 0.10461968183517456,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0869,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.506,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001042479.2",
"gene_symbol": "GEMIN8",
"hgnc_id": 26044,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.269C>G",
"hgvs_p": "p.Ser90Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}