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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: 15-63062599-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63062599&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TPM1",
"hgnc_id": 12010,
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Ala284Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_001365778.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 444,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "15",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,TPM1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.36000001430511475,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1217,
"cdna_start": 809,
"cds_end": null,
"cds_length": 855,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001018005.2",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403994.9",
"protein_coding": true,
"protein_id": "NP_001018005.1",
"strand": true,
"transcript": "NM_001018005.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1217,
"cdna_start": 809,
"cds_end": null,
"cds_length": 855,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000403994.9",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001018005.2",
"protein_coding": true,
"protein_id": "ENSP00000385107.4",
"strand": true,
"transcript": "ENST00000403994.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 798,
"cds_end": null,
"cds_length": 855,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000267996.11",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000267996.7",
"strand": true,
"transcript": "ENST00000267996.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1295,
"cdna_start": 924,
"cds_end": null,
"cds_length": 855,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000288398.10",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000288398.6",
"strand": true,
"transcript": "ENST00000288398.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 871,
"cds_end": null,
"cds_length": 855,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000358278.7",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351022.3",
"strand": true,
"transcript": "ENST00000358278.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 726,
"cds_end": null,
"cds_length": 855,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000560970.6",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453062.2",
"strand": true,
"transcript": "ENST00000560970.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 248,
"aa_ref": "A",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": 723,
"cds_end": null,
"cds_length": 747,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000404484.9",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Ala206Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384315.4",
"strand": true,
"transcript": "ENST00000404484.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 245,
"aa_ref": "A",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1160,
"cdna_start": 705,
"cds_end": null,
"cds_length": 738,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000317516.12",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Ala206Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322577.7",
"strand": true,
"transcript": "ENST00000317516.12",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 245,
"aa_ref": "A",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": 755,
"cds_end": null,
"cds_length": 738,
"cds_start": 618,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000334895.10",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Ala206Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334624.4",
"strand": true,
"transcript": "ENST00000334895.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 341,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1304,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1026,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714017.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519307.1",
"strand": true,
"transcript": "ENST00000714017.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 935,
"cds_end": null,
"cds_length": 981,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001365778.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Ala284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352707.1",
"strand": true,
"transcript": "NM_001365778.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": 935,
"cds_end": null,
"cds_length": 981,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001407322.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Ala284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394251.1",
"strand": true,
"transcript": "NM_001407322.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 935,
"cds_end": null,
"cds_length": 981,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001407323.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Ala284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394252.1",
"strand": true,
"transcript": "NM_001407323.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1145,
"cdna_start": 935,
"cds_end": null,
"cds_length": 981,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001407324.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Ala284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394253.1",
"strand": true,
"transcript": "NM_001407324.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 935,
"cds_end": null,
"cds_length": 981,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000357980.9",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Ala284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350667.4",
"strand": true,
"transcript": "ENST00000357980.9",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1262,
"cdna_start": 939,
"cds_end": null,
"cds_length": 981,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000714013.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Ala284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519303.1",
"strand": true,
"transcript": "ENST00000714013.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 326,
"aa_ref": "A",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1250,
"cdna_start": 935,
"cds_end": null,
"cds_length": 981,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940176.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.852G>A",
"hgvs_p": "p.Ala284Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610235.1",
"strand": true,
"transcript": "ENST00000940176.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 317,
"aa_ref": "A",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1223,
"cdna_start": 908,
"cds_end": null,
"cds_length": 954,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942076.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.825G>A",
"hgvs_p": "p.Ala275Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612135.1",
"strand": true,
"transcript": "ENST00000942076.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 316,
"aa_ref": "A",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 912,
"cds_end": null,
"cds_length": 951,
"cds_start": 822,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942072.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.822G>A",
"hgvs_p": "p.Ala274Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612131.1",
"strand": true,
"transcript": "ENST00000942072.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 311,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 809,
"cds_end": null,
"cds_length": 936,
"cds_start": 726,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001407325.1",
"gene_hgnc_id": 12010,
"gene_symbol": "TPM1",
"hgvs_c": "c.726G>A",
"hgvs_p": "p.Ala242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394254.1",
"strand": true,
"transcript": "NM_001407325.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 306,
"aa_ref": "A",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": 930,
"cds_end": null,
"cds_length": 921,
"cds_start": 792,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893959.1",
"gene_hgnc_id": 12010,
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}