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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: 19-36120759-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36120759&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36120759,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001281.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "NM_001281.3",
"protein_id": "NP_001272.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 244,
"cds_start": 308,
"cds_end": null,
"cds_length": 735,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 987,
"mane_select": "ENST00000221855.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "ENST00000221855.8",
"protein_id": "ENSP00000221855.3",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 244,
"cds_start": 308,
"cds_end": null,
"cds_length": 735,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 987,
"mane_select": "NM_001281.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221855.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Arg52Pro",
"transcript": "ENST00000588385.5",
"protein_id": "ENSP00000467172.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 168,
"cds_start": 155,
"cds_end": null,
"cds_length": 509,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588385.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "ENST00000651435.1",
"protein_id": "ENSP00000498740.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 282,
"cds_start": 308,
"cds_end": null,
"cds_length": 849,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651435.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "ENST00000888742.1",
"protein_id": "ENSP00000558801.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 275,
"cds_start": 308,
"cds_end": null,
"cds_length": 828,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888742.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "ENST00000932775.1",
"protein_id": "ENSP00000602834.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 241,
"cds_start": 308,
"cds_end": null,
"cds_length": 726,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932775.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "ENST00000932776.1",
"protein_id": "ENSP00000602835.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 209,
"cds_start": 308,
"cds_end": null,
"cds_length": 630,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932776.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Arg52Pro",
"transcript": "NM_001300971.3",
"protein_id": "NP_001287900.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 193,
"cds_start": 155,
"cds_end": null,
"cds_length": 582,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300971.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Arg52Pro",
"transcript": "ENST00000585746.1",
"protein_id": "ENSP00000467487.1",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 193,
"cds_start": 155,
"cds_end": null,
"cds_length": 582,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585746.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "ENST00000589996.5",
"protein_id": "ENSP00000465447.1",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 191,
"cds_start": 308,
"cds_end": null,
"cds_length": 576,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589996.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.395G>C",
"hgvs_p": "p.Arg132Pro",
"transcript": "ENST00000591296.1",
"protein_id": "ENSP00000465979.2",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 132,
"cds_start": 395,
"cds_end": null,
"cds_length": 399,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.286+22G>C",
"hgvs_p": null,
"transcript": "ENST00000888743.1",
"protein_id": "ENSP00000558802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888743.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.286+22G>C",
"hgvs_p": null,
"transcript": "ENST00000932777.1",
"protein_id": "ENSP00000602836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "c.105+4575G>C",
"hgvs_p": null,
"transcript": "ENST00000586868.1",
"protein_id": "ENSP00000468055.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "n.385G>C",
"hgvs_p": null,
"transcript": "ENST00000392178.8",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000392178.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "n.278G>C",
"hgvs_p": null,
"transcript": "ENST00000585910.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585910.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "n.295G>C",
"hgvs_p": null,
"transcript": "ENST00000589308.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 659,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000589308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "n.*154G>C",
"hgvs_p": null,
"transcript": "ENST00000589624.5",
"protein_id": "ENSP00000467825.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589624.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "n.902G>C",
"hgvs_p": null,
"transcript": "NR_155756.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_155756.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"hgvs_c": "n.*154G>C",
"hgvs_p": null,
"transcript": "ENST00000589624.5",
"protein_id": "ENSP00000467825.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589624.5"
}
],
"gene_symbol": "TBCB",
"gene_hgnc_id": 1989,
"dbsnp": "rs376064713",
"frequency_reference_population": 0.0000018589894,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136817,
"gnomad_genomes_af": 0.00000658016,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16929912567138672,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.6693,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.693,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001281.3",
"gene_symbol": "TBCB",
"hgnc_id": 1989,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}