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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: 6-159780465-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=159780465&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 159780465,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030752.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1075G>C",
"hgvs_p": "p.Asp359His",
"transcript": "NM_030752.3",
"protein_id": "NP_110379.2",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 556,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": "ENST00000321394.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030752.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1075G>C",
"hgvs_p": "p.Asp359His",
"transcript": "ENST00000321394.12",
"protein_id": "ENSP00000317334.7",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 556,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": "NM_030752.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321394.12"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1075G>C",
"hgvs_p": "p.Asp359His",
"transcript": "ENST00000934596.1",
"protein_id": "ENSP00000604655.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 551,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934596.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1042G>C",
"hgvs_p": "p.Asp348His",
"transcript": "ENST00000934597.1",
"protein_id": "ENSP00000604656.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 545,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934597.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1075G>C",
"hgvs_p": "p.Asp359His",
"transcript": "ENST00000869774.1",
"protein_id": "ENSP00000539833.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 437,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869774.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.1075G>C",
"hgvs_p": "p.Asp359His",
"transcript": "ENST00000420894.6",
"protein_id": "ENSP00000390159.2",
"transcript_support_level": 5,
"aa_start": 359,
"aa_end": null,
"aa_length": 433,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420894.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.655G>C",
"hgvs_p": "p.Asp219His",
"transcript": "ENST00000934598.1",
"protein_id": "ENSP00000604657.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 416,
"cds_start": 655,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934598.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.610G>C",
"hgvs_p": "p.Asp204His",
"transcript": "NM_001008897.2",
"protein_id": "NP_001008897.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 401,
"cds_start": 610,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008897.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.610G>C",
"hgvs_p": "p.Asp204His",
"transcript": "ENST00000392168.6",
"protein_id": "ENSP00000376008.2",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 401,
"cds_start": 610,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392168.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.403G>C",
"hgvs_p": "p.Asp135His",
"transcript": "ENST00000544255.5",
"protein_id": "ENSP00000439447.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 332,
"cds_start": 403,
"cds_end": null,
"cds_length": 999,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544255.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Asp157His",
"transcript": "ENST00000539756.1",
"protein_id": "ENSP00000441345.1",
"transcript_support_level": 3,
"aa_start": 157,
"aa_end": null,
"aa_length": 220,
"cds_start": 469,
"cds_end": null,
"cds_length": 663,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539756.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "c.798-378G>C",
"hgvs_p": null,
"transcript": "ENST00000869775.1",
"protein_id": "ENSP00000539834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": null,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869775.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA20",
"gene_hgnc_id": 32610,
"hgvs_c": "n.-84G>C",
"hgvs_p": null,
"transcript": "ENST00000384662.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 132,
"mane_select": null,
"mane_plus": null,
"biotype": "snoRNA",
"feature": "ENST00000384662.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"hgvs_c": "n.-204G>C",
"hgvs_p": null,
"transcript": "ENST00000546204.1",
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000546204.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA20",
"gene_hgnc_id": 32610,
"hgvs_c": "n.-84G>C",
"hgvs_p": null,
"transcript": "NR_002960.1",
"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": 132,
"mane_select": null,
"mane_plus": null,
"biotype": "snoRNA",
"feature": "NR_002960.1"
}
],
"gene_symbol": "TCP1",
"gene_hgnc_id": 11655,
"dbsnp": "rs1471634057",
"frequency_reference_population": 0.0000061573155,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615732,
"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": 0.8745773434638977,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.82,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9389,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.368,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_030752.3",
"gene_symbol": "TCP1",
"hgnc_id": 11655,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1075G>C",
"hgvs_p": "p.Asp359His"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002960.1",
"gene_symbol": "SNORA20",
"hgnc_id": 32610,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-84G>C",
"hgvs_p": null
}
],
"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
}