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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: 17-18804225-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18804225&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18804225,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016078.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Ser184Gly",
"transcript": "NM_016078.6",
"protein_id": "NP_057162.4",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 205,
"cds_start": 550,
"cds_end": null,
"cds_length": 618,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": "ENST00000307767.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016078.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Ser184Gly",
"transcript": "ENST00000307767.13",
"protein_id": "ENSP00000305654.8",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 205,
"cds_start": 550,
"cds_end": null,
"cds_length": 618,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": "NM_016078.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307767.13"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Ser184Gly",
"transcript": "ENST00000574226.5",
"protein_id": "ENSP00000462334.1",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 203,
"cds_start": 550,
"cds_end": null,
"cds_length": 612,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574226.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ser120Gly",
"transcript": "ENST00000476139.5",
"protein_id": "ENSP00000463400.2",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 141,
"cds_start": 358,
"cds_end": null,
"cds_length": 426,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476139.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.547A>G",
"hgvs_p": "p.Ser183Gly",
"transcript": "ENST00000920914.1",
"protein_id": "ENSP00000590973.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 204,
"cds_start": 547,
"cds_end": null,
"cds_length": 615,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920914.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.460A>G",
"hgvs_p": "p.Ser154Gly",
"transcript": "ENST00000880247.1",
"protein_id": "ENSP00000550306.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 175,
"cds_start": 460,
"cds_end": null,
"cds_length": 528,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880247.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ser120Gly",
"transcript": "NM_001316919.1",
"protein_id": "NP_001303848.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 141,
"cds_start": 358,
"cds_end": null,
"cds_length": 426,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316919.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ser120Gly",
"transcript": "NM_001316920.1",
"protein_id": "NP_001303849.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 141,
"cds_start": 358,
"cds_end": null,
"cds_length": 426,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316920.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ser120Gly",
"transcript": "NM_001316921.2",
"protein_id": "NP_001303850.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 141,
"cds_start": 358,
"cds_end": null,
"cds_length": 426,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316921.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ser120Gly",
"transcript": "ENST00000581733.1",
"protein_id": "ENSP00000465872.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 141,
"cds_start": 358,
"cds_end": null,
"cds_length": 426,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581733.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Ser120Gly",
"transcript": "ENST00000575261.5",
"protein_id": "ENSP00000467001.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 131,
"cds_start": 358,
"cds_end": null,
"cds_length": 396,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575261.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.292A>G",
"hgvs_p": "p.Ser98Gly",
"transcript": "NM_001316922.2",
"protein_id": "NP_001303851.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 119,
"cds_start": 292,
"cds_end": null,
"cds_length": 360,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316922.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.292A>G",
"hgvs_p": "p.Ser98Gly",
"transcript": "NM_001316923.2",
"protein_id": "NP_001303852.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 119,
"cds_start": 292,
"cds_end": null,
"cds_length": 360,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316923.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.292A>G",
"hgvs_p": "p.Ser98Gly",
"transcript": "XM_047436194.1",
"protein_id": "XP_047292150.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 119,
"cds_start": 292,
"cds_end": null,
"cds_length": 360,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436194.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "c.463-1316A>G",
"hgvs_p": null,
"transcript": "ENST00000880248.1",
"protein_id": "ENSP00000550307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880248.1"
},
{
"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": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "n.2083A>G",
"hgvs_p": null,
"transcript": "ENST00000482741.1",
"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": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "n.*291A>G",
"hgvs_p": null,
"transcript": "ENST00000571018.5",
"protein_id": "ENSP00000460797.1",
"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": 718,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571018.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "n.*308A>G",
"hgvs_p": null,
"transcript": "ENST00000574294.5",
"protein_id": "ENSP00000460239.1",
"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": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000574294.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "n.*291A>G",
"hgvs_p": null,
"transcript": "ENST00000571018.5",
"protein_id": "ENSP00000460797.1",
"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": 718,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571018.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"hgvs_c": "n.*308A>G",
"hgvs_p": null,
"transcript": "ENST00000574294.5",
"protein_id": "ENSP00000460239.1",
"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": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000574294.5"
}
],
"gene_symbol": "TVP23B",
"gene_hgnc_id": 20399,
"dbsnp": "rs559635536",
"frequency_reference_population": 0.000008076189,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000342843,
"gnomad_genomes_af": 0.0000528835,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12870943546295166,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.805,
"phylop100way_prediction": "Pathogenic",
"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_016078.6",
"gene_symbol": "TVP23B",
"hgnc_id": 20399,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.550A>G",
"hgvs_p": "p.Ser184Gly"
}
],
"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
}