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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: 11-1938477-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1938477&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TNNT3",
"hgnc_id": 11950,
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Gly265Gly",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_001367846.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 237011,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Arthrogryposis multiplex congenita distal,Distal arthrogryposis type 2B1,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.46000000834465027,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "G",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 840,
"cds_end": null,
"cds_length": 777,
"cds_start": 762,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_006757.4",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Gly254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278317.11",
"protein_coding": true,
"protein_id": "NP_006748.1",
"strand": true,
"transcript": "NM_006757.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "G",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 840,
"cds_end": null,
"cds_length": 777,
"cds_start": 762,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000278317.11",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Gly254Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006757.4",
"protein_coding": true,
"protein_id": "ENSP00000278317.6",
"strand": true,
"transcript": "ENST00000278317.11",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 256,
"aa_ref": "G",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 831,
"cds_end": null,
"cds_length": 771,
"cds_start": 756,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000381589.7",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.756C>T",
"hgvs_p": "p.Gly252Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371001.3",
"strand": true,
"transcript": "ENST00000381589.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 250,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": 813,
"cds_end": null,
"cds_length": 753,
"cds_start": 738,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000381579.7",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.738C>T",
"hgvs_p": "p.Gly246Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370991.3",
"strand": true,
"transcript": "ENST00000381579.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 269,
"aa_ref": "G",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1098,
"cdna_start": 873,
"cds_end": null,
"cds_length": 810,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001367846.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Gly265Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354775.1",
"strand": true,
"transcript": "NM_001367846.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 269,
"aa_ref": "G",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 818,
"cdna_start": 803,
"cds_end": null,
"cds_length": 810,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000397301.5",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Gly265Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380468.1",
"strand": true,
"transcript": "ENST00000397301.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 269,
"aa_ref": "G",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1095,
"cdna_start": 870,
"cds_end": null,
"cds_length": 810,
"cds_start": 795,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000943907.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.795C>T",
"hgvs_p": "p.Gly265Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613966.1",
"strand": true,
"transcript": "ENST00000943907.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 849,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001363561.2",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350490.1",
"strand": true,
"transcript": "NM_001363561.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1040,
"cdna_start": 815,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001367847.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354776.1",
"strand": true,
"transcript": "NM_001367847.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 844,
"cdna_start": 829,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000381563.8",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370975.4",
"strand": true,
"transcript": "ENST00000381563.8",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1297,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000943884.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613943.1",
"strand": true,
"transcript": "ENST00000943884.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 874,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000943885.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613944.1",
"strand": true,
"transcript": "ENST00000943885.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1104,
"cdna_start": 875,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000943886.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613945.1",
"strand": true,
"transcript": "ENST00000943886.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1354,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000943892.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613951.1",
"strand": true,
"transcript": "ENST00000943892.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1332,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000943902.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613961.1",
"strand": true,
"transcript": "ENST00000943902.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1390,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000943924.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613983.1",
"strand": true,
"transcript": "ENST00000943924.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1390,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000943926.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613985.1",
"strand": true,
"transcript": "ENST00000943926.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1300,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000943930.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613989.1",
"strand": true,
"transcript": "ENST00000943930.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1299,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000943931.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613990.1",
"strand": true,
"transcript": "ENST00000943931.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 261,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1039,
"cdna_start": 815,
"cds_end": null,
"cds_length": 786,
"cds_start": 771,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000943936.1",
"gene_hgnc_id": 11950,
"gene_symbol": "TNNT3",
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Gly257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613995.1",
"strand": true,
"transcript": "ENST00000943936.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 260,
"aa_ref": "G",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1073,
"cdna_start": 844,
"cds_end": null,
"cds_length": 783,
"cds_start": 768,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000943900.1",
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}
],
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"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not provided|not specified|Arthrogryposis multiplex congenita distal|Distal arthrogryposis type 2B1",
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}
]
}