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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: 19-55137191-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55137191&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55137191,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000588981.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "NM_003283.6",
"protein_id": "NP_003274.3",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 278,
"cds_start": 523,
"cds_end": null,
"cds_length": 837,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "ENST00000588981.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "ENST00000588981.6",
"protein_id": "ENSP00000467176.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 278,
"cds_start": 523,
"cds_end": null,
"cds_length": 837,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "NM_003283.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "ENST00000291901.12",
"protein_id": "ENSP00000291901.8",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 262,
"cds_start": 523,
"cds_end": null,
"cds_length": 789,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"transcript": "ENST00000356783.9",
"protein_id": "ENSP00000349233.4",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 251,
"cds_start": 490,
"cds_end": null,
"cds_length": 756,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"transcript": "ENST00000587758.5",
"protein_id": "ENSP00000467789.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 251,
"cds_start": 490,
"cds_end": null,
"cds_length": 756,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "NM_001126132.3",
"protein_id": "NP_001119604.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 262,
"cds_start": 523,
"cds_end": null,
"cds_length": 789,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"transcript": "NM_001126133.3",
"protein_id": "NP_001119605.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 251,
"cds_start": 490,
"cds_end": null,
"cds_length": 756,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Trp",
"transcript": "NM_001291774.2",
"protein_id": "NP_001278703.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 251,
"cds_start": 490,
"cds_end": null,
"cds_length": 756,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122Trp",
"transcript": "ENST00000593194.5",
"protein_id": "ENSP00000467881.2",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 209,
"cds_start": 364,
"cds_end": null,
"cds_length": 630,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "ENST00000593046.5",
"protein_id": "ENSP00000470777.1",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 202,
"cds_start": 523,
"cds_end": null,
"cds_length": 611,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.313C>T",
"hgvs_p": "p.Arg105Trp",
"transcript": "ENST00000585321.6",
"protein_id": "ENSP00000467980.2",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 192,
"cds_start": 313,
"cds_end": null,
"cds_length": 579,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.313C>T",
"hgvs_p": "p.Arg105Trp",
"transcript": "ENST00000587465.6",
"protein_id": "ENSP00000464843.2",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 192,
"cds_start": 313,
"cds_end": null,
"cds_length": 579,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.214C>T",
"hgvs_p": "p.Arg72Trp",
"transcript": "ENST00000588426.5",
"protein_id": "ENSP00000465991.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 159,
"cds_start": 214,
"cds_end": null,
"cds_length": 480,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.175C>T",
"hgvs_p": "p.Arg59Trp",
"transcript": "ENST00000589745.5",
"protein_id": "ENSP00000465686.2",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 146,
"cds_start": 175,
"cds_end": null,
"cds_length": 441,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"transcript": "XM_017027186.2",
"protein_id": "XP_016882675.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 262,
"cds_start": 523,
"cds_end": null,
"cds_length": 789,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "XM_011527246.4",
"protein_id": "XP_011525548.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 258,
"cds_start": 511,
"cds_end": null,
"cds_length": 777,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "XM_017027187.2",
"protein_id": "XP_016882676.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 258,
"cds_start": 511,
"cds_end": null,
"cds_length": 777,
"cdna_start": 663,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "n.*372C>T",
"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": [
"3_prime_UTR_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": "n.*372C>T",
"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": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.-15C>T",
"hgvs_p": null,
"transcript": "ENST00000586649.2",
"protein_id": "ENSP00000469564.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"dbsnp": "rs780372739",
"frequency_reference_population": 0.0000061625515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000616255,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8184113502502441,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.704,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8045,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.204,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000588981.6",
"gene_symbol": "TNNT1",
"hgnc_id": 11948,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}