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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: 22-50244053-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50244053&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50244053,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020461.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "NM_020461.4",
"protein_id": "NP_065194.3",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1819,
"cds_start": 407,
"cds_end": null,
"cds_length": 5460,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": "ENST00000248846.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020461.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000248846.10",
"protein_id": "ENSP00000248846.5",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 1819,
"cds_start": 407,
"cds_end": null,
"cds_length": 5460,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": "NM_020461.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248846.10"
},
{
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.407A>G",
"hgvs_p": null,
"transcript": "ENST00000439308.7",
"protein_id": "ENSP00000397387.2",
"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": 6073,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439308.7"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.940A>G",
"hgvs_p": null,
"transcript": "ENST00000498611.5",
"protein_id": null,
"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": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498611.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000949023.1",
"protein_id": "ENSP00000619082.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1815,
"cds_start": 407,
"cds_end": null,
"cds_length": 5448,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 6058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949023.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000949026.1",
"protein_id": "ENSP00000619085.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1807,
"cds_start": 407,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 5987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949026.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000883330.1",
"protein_id": "ENSP00000553389.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1803,
"cds_start": 407,
"cds_end": null,
"cds_length": 5412,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 6024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883330.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000949024.1",
"protein_id": "ENSP00000619083.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1793,
"cds_start": 407,
"cds_end": null,
"cds_length": 5382,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949024.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000949028.1",
"protein_id": "ENSP00000619087.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1789,
"cds_start": 407,
"cds_end": null,
"cds_length": 5370,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949028.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000949025.1",
"protein_id": "ENSP00000619084.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1587,
"cds_start": 407,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 5342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949025.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser",
"transcript": "ENST00000949027.1",
"protein_id": "ENSP00000619086.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1254,
"cds_start": 407,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949027.1"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.971A>G",
"hgvs_p": null,
"transcript": "XR_001755343.3",
"protein_id": null,
"transcript_support_level": null,
"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": 5219,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001755343.3"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.971A>G",
"hgvs_p": null,
"transcript": "XR_007067982.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007067982.1"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"hgvs_c": "n.971A>G",
"hgvs_p": null,
"transcript": "XR_938347.3",
"protein_id": null,
"transcript_support_level": null,
"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": 5618,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_938347.3"
}
],
"gene_symbol": "TUBGCP6",
"gene_hgnc_id": 18127,
"dbsnp": "rs776400082",
"frequency_reference_population": 0.0000328395,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000348899,
"gnomad_genomes_af": 0.0000131434,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03655967116355896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.374,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_020461.4",
"gene_symbol": "TUBGCP6",
"hgnc_id": 18127,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asn136Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}