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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: 9-137428997-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137428997&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137428997,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001256067.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "NM_001256067.2",
"protein_id": "NP_001242996.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 476,
"cds_start": 485,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": "ENST00000683555.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "ENST00000683555.1",
"protein_id": "ENSP00000507846.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 476,
"cds_start": 485,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": "NM_001256067.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "ENST00000341349.6",
"protein_id": "ENSP00000342848.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 483,
"cds_start": 485,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "ENST00000392815.2",
"protein_id": "ENSP00000376562.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 427,
"cds_start": 485,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "NM_006647.2",
"protein_id": "NP_006638.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 483,
"cds_start": 485,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "NM_001256068.2",
"protein_id": "NP_001242997.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 427,
"cds_start": 485,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Ser155Leu",
"transcript": "ENST00000683683.1",
"protein_id": "ENSP00000506984.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 259,
"cds_start": 464,
"cds_end": null,
"cds_length": 780,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "XM_011518158.4",
"protein_id": "XP_011516460.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 447,
"cds_start": 485,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "XM_047422658.1",
"protein_id": "XP_047278614.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 440,
"cds_start": 485,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Leu",
"transcript": "XM_011518159.2",
"protein_id": "XP_011516461.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 335,
"cds_start": 41,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Leu",
"transcript": "XM_047422659.1",
"protein_id": "XP_047278615.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 335,
"cds_start": 41,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu",
"transcript": "XM_047422660.1",
"protein_id": "XP_047278616.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 246,
"cds_start": 485,
"cds_end": null,
"cds_length": 741,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 903,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "n.*178C>T",
"hgvs_p": null,
"transcript": "ENST00000684693.1",
"protein_id": "ENSP00000507334.1",
"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": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "n.*178C>T",
"hgvs_p": null,
"transcript": "ENST00000684693.1",
"protein_id": "ENSP00000507334.1",
"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": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"dbsnp": "rs1564237794",
"frequency_reference_population": 7.0310534e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.03105e-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": 0.04651716351509094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.558,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001256067.2",
"gene_symbol": "NOXA1",
"hgnc_id": 10668,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Ser162Leu"
}
],
"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
}