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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: 9-137205850-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137205850&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137205850,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001144026.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "NM_014434.4",
"protein_id": "NP_055249.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 597,
"cds_start": 73,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684003.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014434.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "ENST00000684003.1",
"protein_id": "ENSP00000507194.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 597,
"cds_start": 73,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014434.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684003.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "ENST00000371521.8",
"protein_id": "ENSP00000360576.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 606,
"cds_start": 73,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371521.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "ENST00000458322.2",
"protein_id": "ENSP00000389905.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 590,
"cds_start": 73,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458322.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "NM_001144026.3",
"protein_id": "NP_001137498.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 606,
"cds_start": 73,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144026.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "NM_001144028.3",
"protein_id": "NP_001137500.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 590,
"cds_start": 73,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144028.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "ENST00000861139.1",
"protein_id": "ENSP00000531198.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 563,
"cds_start": 73,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861139.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "ENST00000938577.1",
"protein_id": "ENSP00000608636.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 562,
"cds_start": 73,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938577.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "NM_001144027.3",
"protein_id": "NP_001137499.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 521,
"cds_start": 73,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144027.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "ENST00000427047.6",
"protein_id": "ENSP00000394309.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 521,
"cds_start": 73,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427047.6"
},
{
"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": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "n.153G>A",
"hgvs_p": null,
"transcript": "ENST00000612145.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000612145.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"hgvs_c": "n.166G>A",
"hgvs_p": null,
"transcript": "ENST00000613750.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000613750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM203",
"gene_hgnc_id": 28217,
"hgvs_c": "c.-436C>T",
"hgvs_p": null,
"transcript": "NM_053045.2",
"protein_id": "NP_444273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343666.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053045.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM203",
"gene_hgnc_id": 28217,
"hgvs_c": "c.-436C>T",
"hgvs_p": null,
"transcript": "ENST00000343666.6",
"protein_id": "ENSP00000375053.4",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053045.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343666.6"
}
],
"gene_symbol": "NDOR1",
"gene_hgnc_id": 29838,
"dbsnp": "rs367940263",
"frequency_reference_population": 0.00002557548,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000261917,
"gnomad_genomes_af": 0.0000197034,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3131517767906189,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.258,
"revel_prediction": "Benign",
"alphamissense_score": 0.1722,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.883,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001144026.3",
"gene_symbol": "NDOR1",
"hgnc_id": 29838,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_053045.2",
"gene_symbol": "TMEM203",
"hgnc_id": 28217,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-436C>T",
"hgvs_p": null
}
],
"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
}