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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: 6-30722618-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30722618&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30722618,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001293212.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "NM_178014.4",
"protein_id": "NP_821133.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 444,
"cds_start": 139,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327892.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178014.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "ENST00000327892.13",
"protein_id": "ENSP00000339001.7",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 444,
"cds_start": 139,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178014.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327892.13"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Ile67Val",
"transcript": "NM_001293212.2",
"protein_id": "NP_001280141.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 464,
"cds_start": 199,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293212.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.85A>G",
"hgvs_p": "p.Ile29Val",
"transcript": "ENST00000396389.5",
"protein_id": "ENSP00000379672.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 426,
"cds_start": 85,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396389.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "ENST00000940307.1",
"protein_id": "ENSP00000610366.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 407,
"cds_start": 139,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940307.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "ENST00000940306.1",
"protein_id": "ENSP00000610365.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 393,
"cds_start": 139,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940306.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "ENST00000940309.1",
"protein_id": "ENSP00000610368.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 379,
"cds_start": 139,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940309.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "ENST00000940308.1",
"protein_id": "ENSP00000610367.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 356,
"cds_start": 139,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940308.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "NM_001293213.2",
"protein_id": "NP_001280142.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 242,
"cds_start": 139,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293213.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.-78A>G",
"hgvs_p": null,
"transcript": "NM_001293215.2",
"protein_id": "NP_001280144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293215.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.-78A>G",
"hgvs_p": null,
"transcript": "NM_001293216.2",
"protein_id": "NP_001280145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293216.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.-78A>G",
"hgvs_p": null,
"transcript": "ENST00000330914.7",
"protein_id": "ENSP00000365578.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330914.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.-78A>G",
"hgvs_p": null,
"transcript": "ENST00000396384.1",
"protein_id": "ENSP00000379668.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.-78A>G",
"hgvs_p": null,
"transcript": "ENST00000681435.1",
"protein_id": "ENSP00000506665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.35-300A>G",
"hgvs_p": null,
"transcript": "NM_001293214.2",
"protein_id": "NP_001280143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": null,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293214.2"
},
{
"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": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "n.1001A>G",
"hgvs_p": null,
"transcript": "ENST00000680530.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000680530.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "n.933A>G",
"hgvs_p": null,
"transcript": "ENST00000681421.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000681421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "n.294A>G",
"hgvs_p": null,
"transcript": "NR_120608.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_120608.2"
}
],
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"dbsnp": "rs1776361528",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2704557180404663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.1243,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.496,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP5_Moderate,BP4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 1,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP5_Moderate",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001293212.2",
"gene_symbol": "TUBB",
"hgnc_id": 20778,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Ile67Val"
}
],
"clinvar_disease": "Complex cortical dysplasia with other brain malformations 6",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Complex cortical dysplasia with other brain malformations 6",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}