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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: 8-132971804-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132971804&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132971804,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000220616.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "NM_003235.5",
"protein_id": "NP_003226.4",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2768,
"cds_start": 5986,
"cds_end": null,
"cds_length": 8307,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 8455,
"mane_select": "ENST00000220616.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "ENST00000220616.9",
"protein_id": "ENSP00000220616.4",
"transcript_support_level": 1,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2768,
"cds_start": 5986,
"cds_end": null,
"cds_length": 8307,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 8455,
"mane_select": "NM_003235.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.*2199T>A",
"hgvs_p": null,
"transcript": "ENST00000523756.5",
"protein_id": "ENSP00000428628.1",
"transcript_support_level": 1,
"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": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.*2199T>A",
"hgvs_p": null,
"transcript": "ENST00000523756.5",
"protein_id": "ENSP00000428628.1",
"transcript_support_level": 1,
"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": 5065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.1351T>A",
"hgvs_p": "p.Cys451Ser",
"transcript": "ENST00000519178.5",
"protein_id": "ENSP00000430523.1",
"transcript_support_level": 2,
"aa_start": 451,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1351,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.448T>A",
"hgvs_p": "p.Cys150Ser",
"transcript": "ENST00000519543.5",
"protein_id": "ENSP00000430430.1",
"transcript_support_level": 2,
"aa_start": 150,
"aa_end": null,
"aa_length": 901,
"cds_start": 448,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "XM_006716622.4",
"protein_id": "XP_006716685.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2747,
"cds_start": 5986,
"cds_end": null,
"cds_length": 8244,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 8392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5920T>A",
"hgvs_p": "p.Cys1974Ser",
"transcript": "XM_017013793.2",
"protein_id": "XP_016869282.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 2746,
"cds_start": 5920,
"cds_end": null,
"cds_length": 8241,
"cdna_start": 5963,
"cdna_end": null,
"cdna_length": 8389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "XM_017013794.2",
"protein_id": "XP_016869283.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2723,
"cds_start": 5986,
"cds_end": null,
"cds_length": 8172,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 8320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5815T>A",
"hgvs_p": "p.Cys1939Ser",
"transcript": "XM_017013795.2",
"protein_id": "XP_016869284.1",
"transcript_support_level": null,
"aa_start": 1939,
"aa_end": null,
"aa_length": 2711,
"cds_start": 5815,
"cds_end": null,
"cds_length": 8136,
"cdna_start": 5858,
"cdna_end": null,
"cdna_length": 8284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5794T>A",
"hgvs_p": "p.Cys1932Ser",
"transcript": "XM_005251038.5",
"protein_id": "XP_005251095.1",
"transcript_support_level": null,
"aa_start": 1932,
"aa_end": null,
"aa_length": 2704,
"cds_start": 5794,
"cds_end": null,
"cds_length": 8115,
"cdna_start": 5837,
"cdna_end": null,
"cdna_length": 8263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5767T>A",
"hgvs_p": "p.Cys1923Ser",
"transcript": "XM_017013796.2",
"protein_id": "XP_016869285.1",
"transcript_support_level": null,
"aa_start": 1923,
"aa_end": null,
"aa_length": 2695,
"cds_start": 5767,
"cds_end": null,
"cds_length": 8088,
"cdna_start": 5810,
"cdna_end": null,
"cdna_length": 8236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5725T>A",
"hgvs_p": "p.Cys1909Ser",
"transcript": "XM_047422166.1",
"protein_id": "XP_047278122.1",
"transcript_support_level": null,
"aa_start": 1909,
"aa_end": null,
"aa_length": 2681,
"cds_start": 5725,
"cds_end": null,
"cds_length": 8046,
"cdna_start": 5773,
"cdna_end": null,
"cdna_length": 8199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "XM_017013798.2",
"protein_id": "XP_016869287.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2445,
"cds_start": 5986,
"cds_end": null,
"cds_length": 7338,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 7396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "XM_005251040.5",
"protein_id": "XP_005251097.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2178,
"cds_start": 5986,
"cds_end": null,
"cds_length": 6537,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 7692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "XM_017013799.2",
"protein_id": "XP_016869288.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2140,
"cds_start": 5986,
"cds_end": null,
"cds_length": 6423,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 6485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "XM_005251042.5",
"protein_id": "XP_005251099.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2121,
"cds_start": 5986,
"cds_end": null,
"cds_length": 6366,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 7599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser",
"transcript": "XM_017013800.2",
"protein_id": "XP_016869289.1",
"transcript_support_level": null,
"aa_start": 1996,
"aa_end": null,
"aa_length": 2103,
"cds_start": 5986,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 6574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.95T>A",
"hgvs_p": null,
"transcript": "ENST00000520089.5",
"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": 712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.123T>A",
"hgvs_p": null,
"transcript": "ENST00000520197.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.-23T>A",
"hgvs_p": null,
"transcript": "ENST00000519294.5",
"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": 620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.-47T>A",
"hgvs_p": null,
"transcript": "ENST00000524151.5",
"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": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"dbsnp": "rs2076739",
"frequency_reference_population": 6.8445615e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84456e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9745930433273315,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.816,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9825,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.428,
"phylop100way_prediction": "Uncertain_significance",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000220616.9",
"gene_symbol": "TG",
"hgnc_id": 11764,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5986T>A",
"hgvs_p": "p.Cys1996Ser"
}
],
"clinvar_disease": "Iodotyrosyl coupling defect",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Iodotyrosyl coupling defect",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}