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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: 6-123503758-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123503758&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 123503758,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000334268.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "NM_006073.4",
"protein_id": "NP_006064.2",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 729,
"cds_start": 754,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": "ENST00000334268.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "ENST00000334268.9",
"protein_id": "ENSP00000333984.5",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 729,
"cds_start": 754,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": "NM_006073.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "ENST00000628709.2",
"protein_id": "ENSP00000486095.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 297,
"cds_start": 754,
"cds_end": null,
"cds_length": 894,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "ENST00000546248.6",
"protein_id": "ENSP00000439281.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 286,
"cds_start": 754,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "NM_001251987.2",
"protein_id": "NP_001238916.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 461,
"cds_start": 754,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 4606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "ENST00000662930.1",
"protein_id": "ENSP00000499585.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 461,
"cds_start": 754,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "NM_001407315.1",
"protein_id": "NP_001394244.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 441,
"cds_start": 754,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "NM_001256020.2",
"protein_id": "NP_001242949.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 297,
"cds_start": 754,
"cds_end": null,
"cds_length": 894,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "NM_001256021.2",
"protein_id": "NP_001242950.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 286,
"cds_start": 754,
"cds_end": null,
"cds_length": 861,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Asp186Asn",
"transcript": "ENST00000361029.9",
"protein_id": "ENSP00000354307.5",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 246,
"cds_start": 556,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Asp186Asn",
"transcript": "ENST00000714023.1",
"protein_id": "ENSP00000519313.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 202,
"cds_start": 556,
"cds_end": null,
"cds_length": 609,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.409-5688C>T",
"hgvs_p": null,
"transcript": "ENST00000625262.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.387-5688C>T",
"hgvs_p": null,
"transcript": "ENST00000628939.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.322-5688C>T",
"hgvs_p": null,
"transcript": "ENST00000656482.3",
"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": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.370-5688C>T",
"hgvs_p": null,
"transcript": "ENST00000668867.4",
"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": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.191-5688C>T",
"hgvs_p": null,
"transcript": "ENST00000761437.1",
"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,
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"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.258-4223C>T",
"hgvs_p": null,
"transcript": "ENST00000761438.1",
"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": 672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.190-2752C>T",
"hgvs_p": null,
"transcript": "ENST00000761439.1",
"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": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRDN-AS1",
"gene_hgnc_id": 40592,
"hgvs_c": "n.271-2752C>T",
"hgvs_p": null,
"transcript": "ENST00000761440.1",
"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": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRDN",
"gene_hgnc_id": 12261,
"dbsnp": "rs749401047",
"frequency_reference_population": 0.0000013683953,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013684,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09712877869606018,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.689,
"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": 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": "ENST00000334268.9",
"gene_symbol": "TRDN",
"hgnc_id": 12261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000656482.3",
"gene_symbol": "TRDN-AS1",
"hgnc_id": 40592,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.322-5688C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}