← Back to variant description
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: 17-51747713-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=51747713&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 51747713,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020178.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "NM_020178.5",
"protein_id": "NP_064563.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 328,
"cds_start": 385,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451037.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020178.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "ENST00000451037.7",
"protein_id": "ENSP00000405388.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 328,
"cds_start": 385,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020178.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451037.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "ENST00000285273.8",
"protein_id": "ENSP00000285273.4",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 328,
"cds_start": 385,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285273.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "ENST00000442502.6",
"protein_id": "ENSP00000390666.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 328,
"cds_start": 385,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442502.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "ENST00000575181.1",
"protein_id": "ENSP00000460238.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 275,
"cds_start": 385,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "n.*427G>C",
"hgvs_p": null,
"transcript": "ENST00000571371.5",
"protein_id": "ENSP00000461908.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000571371.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "n.*427G>C",
"hgvs_p": null,
"transcript": "ENST00000571371.5",
"protein_id": "ENSP00000461908.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000571371.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "NM_001082533.1",
"protein_id": "NP_001076002.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 328,
"cds_start": 385,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082533.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "NM_001082534.2",
"protein_id": "NP_001076003.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 328,
"cds_start": 385,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082534.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "ENST00000897800.1",
"protein_id": "ENSP00000567859.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 328,
"cds_start": 385,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897800.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln",
"transcript": "ENST00000897801.1",
"protein_id": "ENSP00000567860.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 326,
"cds_start": 385,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897801.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Glu54Gln",
"transcript": "ENST00000570565.5",
"protein_id": "ENSP00000459619.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 253,
"cds_start": 160,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570565.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "c.76G>C",
"hgvs_p": "p.Glu26Gln",
"transcript": "ENST00000575097.1",
"protein_id": "ENSP00000458145.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 56,
"cds_start": 76,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575097.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"hgvs_c": "n.224G>C",
"hgvs_p": null,
"transcript": "ENST00000571918.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000571918.1"
}
],
"gene_symbol": "CA10",
"gene_hgnc_id": 1369,
"dbsnp": "rs781531116",
"frequency_reference_population": 0.000006569784,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656978,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4410878121852875,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.3851,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.14,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020178.5",
"gene_symbol": "CA10",
"hgnc_id": 1369,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.385G>C",
"hgvs_p": "p.Glu129Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}