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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: 6-159780076-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=159780076&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCP1",
"hgnc_id": 11655,
"hgvs_c": "c.1109G>C",
"hgvs_p": "p.Arg370Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_030752.3",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "SNORA20",
"hgnc_id": 32610,
"hgvs_c": "n.*174G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NR_002960.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.7358,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.567875325679779,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_030752.3",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.1109G>C",
"hgvs_p": "p.Arg370Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321394.12",
"protein_coding": true,
"protein_id": "NP_110379.2",
"strand": false,
"transcript": "NM_030752.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000321394.12",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.1109G>C",
"hgvs_p": "p.Arg370Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030752.3",
"protein_coding": true,
"protein_id": "ENSP00000317334.7",
"strand": false,
"transcript": "ENST00000321394.12",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 551,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934596.1",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.1109G>C",
"hgvs_p": "p.Arg370Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604655.1",
"strand": false,
"transcript": "ENST00000934596.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 545,
"aa_ref": "R",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934597.1",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.1076G>C",
"hgvs_p": "p.Arg359Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604656.1",
"strand": false,
"transcript": "ENST00000934597.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 456,
"aa_ref": "R",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1371,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000869775.1",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.809G>C",
"hgvs_p": "p.Arg270Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539834.1",
"strand": false,
"transcript": "ENST00000869775.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 433,
"aa_ref": "R",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1109,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000420894.6",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.1109G>C",
"hgvs_p": "p.Arg370Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390159.2",
"strand": false,
"transcript": "ENST00000420894.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 416,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1251,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934598.1",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604657.1",
"strand": false,
"transcript": "ENST00000934598.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 401,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 1206,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001008897.2",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Arg215Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008897.1",
"strand": false,
"transcript": "NM_001008897.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 401,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1878,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1206,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000392168.6",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Arg215Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376008.2",
"strand": false,
"transcript": "ENST00000392168.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 332,
"aa_ref": "R",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 760,
"cds_end": null,
"cds_length": 999,
"cds_start": 437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000544255.5",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.437G>C",
"hgvs_p": "p.Arg146Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439447.1",
"strand": false,
"transcript": "ENST00000544255.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 220,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 780,
"cdna_start": 620,
"cds_end": null,
"cds_length": 663,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000539756.1",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.503G>C",
"hgvs_p": "p.Arg168Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441345.1",
"strand": false,
"transcript": "ENST00000539756.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 437,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": null,
"cds_end": null,
"cds_length": 1314,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869774.1",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "c.1097+367G>C",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539833.1",
"strand": false,
"transcript": "ENST00000869774.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000546204.1",
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"hgvs_c": "n.186G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000546204.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "snoRNA",
"canonical": false,
"cdna_end": null,
"cdna_length": 132,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000384662.1",
"gene_hgnc_id": 32610,
"gene_symbol": "SNORA20",
"hgvs_c": "n.*174G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000384662.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "snoRNA",
"canonical": false,
"cdna_end": null,
"cdna_length": 132,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_002960.1",
"gene_hgnc_id": 32610,
"gene_symbol": "SNORA20",
"hgvs_c": "n.*174G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_002960.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs772550765",
"effect": "missense_variant",
"frequency_reference_population": 0.000008674736,
"gene_hgnc_id": 11655,
"gene_symbol": "TCP1",
"gnomad_exomes_ac": 13,
"gnomad_exomes_af": 0.00000889324,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657471,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.276,
"pos": 159780076,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.399,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_030752.3"
}
]
}