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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: 19-55141216-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55141216&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55141216,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000588981.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Glu93Glu",
"transcript": "NM_003283.6",
"protein_id": "NP_003274.3",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 278,
"cds_start": 279,
"cds_end": null,
"cds_length": 837,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "ENST00000588981.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Glu93Glu",
"transcript": "ENST00000588981.6",
"protein_id": "ENSP00000467176.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 278,
"cds_start": 279,
"cds_end": null,
"cds_length": 837,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "NM_003283.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Glu93Glu",
"transcript": "ENST00000291901.12",
"protein_id": "ENSP00000291901.8",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 262,
"cds_start": 279,
"cds_end": null,
"cds_length": 789,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Glu82Glu",
"transcript": "ENST00000356783.9",
"protein_id": "ENSP00000349233.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 251,
"cds_start": 246,
"cds_end": null,
"cds_length": 756,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Glu82Glu",
"transcript": "ENST00000587758.5",
"protein_id": "ENSP00000467789.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 251,
"cds_start": 246,
"cds_end": null,
"cds_length": 756,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Glu89Glu",
"transcript": "ENST00000588147.5",
"protein_id": "ENSP00000467299.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 143,
"cds_start": 267,
"cds_end": null,
"cds_length": 432,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Glu93Glu",
"transcript": "NM_001126132.3",
"protein_id": "NP_001119604.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 262,
"cds_start": 279,
"cds_end": null,
"cds_length": 789,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Glu82Glu",
"transcript": "NM_001126133.3",
"protein_id": "NP_001119605.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 251,
"cds_start": 246,
"cds_end": null,
"cds_length": 756,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Glu82Glu",
"transcript": "NM_001291774.2",
"protein_id": "NP_001278703.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 251,
"cds_start": 246,
"cds_end": null,
"cds_length": 756,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.120A>G",
"hgvs_p": "p.Glu40Glu",
"transcript": "ENST00000593194.5",
"protein_id": "ENSP00000467881.2",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 209,
"cds_start": 120,
"cds_end": null,
"cds_length": 630,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Glu93Glu",
"transcript": "ENST00000593046.5",
"protein_id": "ENSP00000470777.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 202,
"cds_start": 279,
"cds_end": null,
"cds_length": 611,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.69A>G",
"hgvs_p": "p.Glu23Glu",
"transcript": "ENST00000585321.6",
"protein_id": "ENSP00000467980.2",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 192,
"cds_start": 69,
"cds_end": null,
"cds_length": 579,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.69A>G",
"hgvs_p": "p.Glu23Glu",
"transcript": "ENST00000587465.6",
"protein_id": "ENSP00000464843.2",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 192,
"cds_start": 69,
"cds_end": null,
"cds_length": 579,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Glu82Glu",
"transcript": "ENST00000589226.5",
"protein_id": "ENSP00000470854.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 150,
"cds_start": 246,
"cds_end": null,
"cds_length": 453,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Glu93Glu",
"transcript": "XM_017027186.2",
"protein_id": "XP_016882675.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 262,
"cds_start": 279,
"cds_end": null,
"cds_length": 789,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Glu89Glu",
"transcript": "XM_011527246.4",
"protein_id": "XP_011525548.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 258,
"cds_start": 267,
"cds_end": null,
"cds_length": 777,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.267A>G",
"hgvs_p": "p.Glu89Glu",
"transcript": "XM_017027187.2",
"protein_id": "XP_016882676.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 258,
"cds_start": 267,
"cds_end": null,
"cds_length": 777,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "n.*128A>G",
"hgvs_p": null,
"transcript": "ENST00000587089.6",
"protein_id": "ENSP00000465544.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "n.357A>G",
"hgvs_p": null,
"transcript": "ENST00000592920.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "n.*128A>G",
"hgvs_p": null,
"transcript": "ENST00000587089.6",
"protein_id": "ENSP00000465544.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.49-304A>G",
"hgvs_p": null,
"transcript": "ENST00000588426.5",
"protein_id": "ENSP00000465991.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"dbsnp": "rs34313388",
"frequency_reference_population": 0.00048692068,
"hom_count_reference_population": 6,
"allele_count_reference_population": 786,
"gnomad_exomes_af": 0.000251733,
"gnomad_genomes_af": 0.00274354,
"gnomad_exomes_ac": 368,
"gnomad_genomes_ac": 418,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.911,
"phylop100way_prediction": "Benign",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000588981.6",
"gene_symbol": "TNNT1",
"hgnc_id": 11948,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Glu93Glu"
}
],
"clinvar_disease": "Nemaline myopathy 5,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1 O:1",
"phenotype_combined": "not provided|Nemaline myopathy 5",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}