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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: 11-764414-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=764414&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 764414,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006755.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.962A>T",
"hgvs_p": "p.Lys321Met",
"transcript": "NM_006755.2",
"protein_id": "NP_006746.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 337,
"cds_start": 962,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319006.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006755.2"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.962A>T",
"hgvs_p": "p.Lys321Met",
"transcript": "ENST00000319006.8",
"protein_id": "ENSP00000321259.3",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 337,
"cds_start": 962,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006755.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319006.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.*1A>T",
"hgvs_p": null,
"transcript": "ENST00000528097.5",
"protein_id": "ENSP00000437098.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528097.5"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.1025A>T",
"hgvs_p": "p.Lys342Met",
"transcript": "ENST00000896396.1",
"protein_id": "ENSP00000566455.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 358,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896396.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.956A>T",
"hgvs_p": "p.Lys319Met",
"transcript": "ENST00000933599.1",
"protein_id": "ENSP00000603658.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 335,
"cds_start": 956,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933599.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.854A>T",
"hgvs_p": "p.Lys285Met",
"transcript": "ENST00000896394.1",
"protein_id": "ENSP00000566453.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 301,
"cds_start": 854,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896394.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.779A>T",
"hgvs_p": "p.Lys260Met",
"transcript": "ENST00000896395.1",
"protein_id": "ENSP00000566454.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 276,
"cds_start": 779,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896395.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Lys255Met",
"transcript": "ENST00000933598.1",
"protein_id": "ENSP00000603657.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 271,
"cds_start": 764,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "c.957+5A>T",
"hgvs_p": null,
"transcript": "ENST00000896397.1",
"protein_id": "ENSP00000566456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896397.1"
},
{
"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": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "n.433A>T",
"hgvs_p": null,
"transcript": "ENST00000530666.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000530666.1"
},
{
"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": "TALDO1",
"gene_hgnc_id": 11559,
"hgvs_c": "n.45A>T",
"hgvs_p": null,
"transcript": "ENST00000532202.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000532202.1"
}
],
"gene_symbol": "TALDO1",
"gene_hgnc_id": 11559,
"dbsnp": "rs11302",
"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": 0.9332263469696045,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.84,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3033,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.607,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006755.2",
"gene_symbol": "TALDO1",
"hgnc_id": 11559,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.962A>T",
"hgvs_p": "p.Lys321Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}