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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: 19-55147019-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55147019&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55147019,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000588981.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "NM_003283.6",
"protein_id": "NP_003274.3",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 278,
"cds_start": 35,
"cds_end": null,
"cds_length": 837,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "ENST00000588981.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "ENST00000588981.6",
"protein_id": "ENSP00000467176.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 278,
"cds_start": 35,
"cds_end": null,
"cds_length": 837,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "NM_003283.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "ENST00000291901.12",
"protein_id": "ENSP00000291901.8",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 262,
"cds_start": 35,
"cds_end": null,
"cds_length": 789,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "ENST00000356783.9",
"protein_id": "ENSP00000349233.4",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 251,
"cds_start": 35,
"cds_end": null,
"cds_length": 756,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "ENST00000587758.5",
"protein_id": "ENSP00000467789.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 251,
"cds_start": 35,
"cds_end": null,
"cds_length": 756,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "ENST00000588147.5",
"protein_id": "ENSP00000467299.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 143,
"cds_start": 35,
"cds_end": null,
"cds_length": 432,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "NM_001126132.3",
"protein_id": "NP_001119604.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 262,
"cds_start": 35,
"cds_end": null,
"cds_length": 789,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "NM_001126133.3",
"protein_id": "NP_001119605.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 251,
"cds_start": 35,
"cds_end": null,
"cds_length": 756,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "NM_001291774.2",
"protein_id": "NP_001278703.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 251,
"cds_start": 35,
"cds_end": null,
"cds_length": 756,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "ENST00000593046.5",
"protein_id": "ENSP00000470777.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 202,
"cds_start": 35,
"cds_end": null,
"cds_length": 611,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Ser4Gly",
"transcript": "ENST00000588426.5",
"protein_id": "ENSP00000465991.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 159,
"cds_start": 10,
"cds_end": null,
"cds_length": 480,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "ENST00000589226.5",
"protein_id": "ENSP00000470854.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 150,
"cds_start": 35,
"cds_end": null,
"cds_length": 453,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "XM_017027186.2",
"protein_id": "XP_016882675.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 262,
"cds_start": 35,
"cds_end": null,
"cds_length": 789,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "XM_011527246.4",
"protein_id": "XP_011525548.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 258,
"cds_start": 35,
"cds_end": null,
"cds_length": 777,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly",
"transcript": "XM_017027187.2",
"protein_id": "XP_016882676.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 258,
"cds_start": 35,
"cds_end": null,
"cds_length": 777,
"cdna_start": 187,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "n.92A>G",
"hgvs_p": null,
"transcript": "ENST00000586282.1",
"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": 327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "n.113A>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": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.-443A>G",
"hgvs_p": null,
"transcript": "ENST00000585321.6",
"protein_id": "ENSP00000467980.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.-476A>G",
"hgvs_p": null,
"transcript": "ENST00000587465.6",
"protein_id": "ENSP00000464843.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"dbsnp": "rs112562759",
"frequency_reference_population": 0.08855555,
"hom_count_reference_population": 7012,
"allele_count_reference_population": 142666,
"gnomad_exomes_af": 0.0908454,
"gnomad_genomes_af": 0.0666045,
"gnomad_exomes_ac": 132530,
"gnomad_genomes_ac": 10136,
"gnomad_exomes_homalt": 6543,
"gnomad_genomes_homalt": 469,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0018885135650634766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1052,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.527,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000588981.6",
"gene_symbol": "TNNT1",
"hgnc_id": 11948,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.35A>G",
"hgvs_p": "p.Glu12Gly"
}
],
"clinvar_disease": " Recessive,Dilated Cardiomyopathy,Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome,Familial restrictive cardiomyopathy,Hypertrophic cardiomyopathy,Nemaline myopathy 5,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:7 O:1",
"phenotype_combined": "not provided|not specified|Dilated Cardiomyopathy, Recessive|Familial restrictive cardiomyopathy|Hypertrophic cardiomyopathy|Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome|Nemaline myopathy 5",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}