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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: 9-35683185-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35683185&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PP2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TPM2",
"hgnc_id": 12011,
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Ala277Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 0,
"transcript": "NM_003289.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,BP4",
"acmg_score": 0,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.3891,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " distal, type 1A,Arthrogryposis",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3865663409233093,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1190,
"cdna_start": 937,
"cds_end": null,
"cds_length": 855,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_003289.4",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Ala277Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645482.3",
"protein_coding": true,
"protein_id": "NP_003280.2",
"strand": false,
"transcript": "NM_003289.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1190,
"cdna_start": 937,
"cds_end": null,
"cds_length": 855,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000645482.3",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Ala277Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003289.4",
"protein_coding": true,
"protein_id": "ENSP00000496494.2",
"strand": false,
"transcript": "ENST00000645482.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": null,
"cds_end": null,
"cds_length": 855,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378292.9",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.773-1022G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367542.3",
"strand": false,
"transcript": "ENST00000378292.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 289,
"aa_ref": "A",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1211,
"cdna_start": 953,
"cds_end": null,
"cds_length": 870,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000951580.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621639.1",
"strand": false,
"transcript": "ENST00000951580.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1190,
"cdna_start": 937,
"cds_end": null,
"cds_length": 855,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001301227.2",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Ala277Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288156.1",
"strand": false,
"transcript": "NM_001301227.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 937,
"cds_end": null,
"cds_length": 855,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000647435.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Ala277Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495440.1",
"strand": false,
"transcript": "ENST00000647435.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1190,
"cdna_start": 931,
"cds_end": null,
"cds_length": 849,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951581.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Ala275Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621640.1",
"strand": false,
"transcript": "ENST00000951581.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 264,
"aa_ref": "A",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1131,
"cdna_start": 878,
"cds_end": null,
"cds_length": 795,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951585.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Ala257Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621644.1",
"strand": false,
"transcript": "ENST00000951585.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 263,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1132,
"cdna_start": 874,
"cds_end": null,
"cds_length": 792,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951582.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Ala256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621641.1",
"strand": false,
"transcript": "ENST00000951582.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 243,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 810,
"cds_end": null,
"cds_length": 732,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951578.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.706G>A",
"hgvs_p": "p.Ala236Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621637.1",
"strand": false,
"transcript": "ENST00000951578.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 242,
"aa_ref": "A",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 811,
"cds_end": null,
"cds_length": 729,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951577.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Ala235Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621636.1",
"strand": false,
"transcript": "ENST00000951577.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 242,
"aa_ref": "A",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 812,
"cds_end": null,
"cds_length": 729,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951584.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Ala235Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621643.1",
"strand": false,
"transcript": "ENST00000951584.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 228,
"aa_ref": "A",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1024,
"cdna_start": 769,
"cds_end": null,
"cds_length": 687,
"cds_start": 661,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951583.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Ala221Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621642.1",
"strand": false,
"transcript": "ENST00000951583.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 200,
"aa_ref": "A",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": 686,
"cds_end": null,
"cds_length": 603,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951579.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621638.1",
"strand": false,
"transcript": "ENST00000951579.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1036,
"cdna_start": null,
"cds_end": null,
"cds_length": 855,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301226.2",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.773-1022G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288155.1",
"strand": false,
"transcript": "NM_001301226.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": null,
"cds_end": null,
"cds_length": 855,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_213674.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.773-1022G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_998839.1",
"strand": false,
"transcript": "NM_213674.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1018,
"cdna_start": null,
"cds_end": null,
"cds_length": 855,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000329305.6",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.773-1022G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367541.1",
"strand": false,
"transcript": "ENST00000329305.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": null,
"cds_end": null,
"cds_length": 399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644325.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "c.203-281G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495075.1",
"strand": false,
"transcript": "ENST00000644325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643485.1",
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"hgvs_c": "n.664G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000643485.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs371325326",
"effect": "missense_variant",
"frequency_reference_population": 0.000012853066,
"gene_hgnc_id": 12011,
"gene_symbol": "TPM2",
"gnomad_exomes_ac": 18,
"gnomad_exomes_af": 0.0000128531,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Arthrogryposis, distal, type 1A",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"pos": 35683185,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.5,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003289.4"
}
]
}