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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: 9-133043728-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133043728&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133043728,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001122823.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "NM_012087.4",
"protein_id": "NP_036219.2",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 519,
"cds_start": 374,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372097.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012087.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "ENST00000372097.10",
"protein_id": "ENSP00000361169.5",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 519,
"cds_start": 374,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012087.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372097.10"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "ENST00000372108.9",
"protein_id": "ENSP00000361180.5",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 526,
"cds_start": 374,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372108.9"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "NM_001122823.2",
"protein_id": "NP_001116295.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 526,
"cds_start": 374,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122823.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.317G>C",
"hgvs_p": "p.Gly106Ala",
"transcript": "ENST00000916424.1",
"protein_id": "ENSP00000586483.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 507,
"cds_start": 317,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916424.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.317G>C",
"hgvs_p": "p.Gly106Ala",
"transcript": "ENST00000902265.1",
"protein_id": "ENSP00000572324.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 500,
"cds_start": 317,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902265.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "ENST00000902266.1",
"protein_id": "ENSP00000572325.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 484,
"cds_start": 374,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902266.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "ENST00000916423.1",
"protein_id": "ENSP00000586482.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 467,
"cds_start": 374,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916423.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "ENST00000342018.12",
"protein_id": "ENSP00000339530.7",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 457,
"cds_start": 374,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342018.12"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Gly52Arg",
"transcript": "ENST00000916426.1",
"protein_id": "ENSP00000586485.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 444,
"cds_start": 154,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916426.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Gly78Ala",
"transcript": "ENST00000440319.5",
"protein_id": "ENSP00000389498.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 243,
"cds_start": 233,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.-2G>C",
"hgvs_p": null,
"transcript": "ENST00000439697.1",
"protein_id": "ENSP00000393207.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439697.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "XM_047424080.1",
"protein_id": "XP_047280036.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 537,
"cds_start": 374,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424080.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Gly78Ala",
"transcript": "XM_047424081.1",
"protein_id": "XP_047280037.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 490,
"cds_start": 233,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424081.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Gly78Ala",
"transcript": "XM_017015315.2",
"protein_id": "XP_016870804.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 479,
"cds_start": 233,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015315.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.233G>C",
"hgvs_p": "p.Gly78Ala",
"transcript": "XM_017015316.2",
"protein_id": "XP_016870805.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 472,
"cds_start": 233,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015316.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.-2G>C",
"hgvs_p": null,
"transcript": "ENST00000439697.1",
"protein_id": "ENSP00000393207.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439697.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.51-7055G>C",
"hgvs_p": null,
"transcript": "NM_001286709.2",
"protein_id": "NP_001273638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286709.2"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.51-7055G>C",
"hgvs_p": null,
"transcript": "ENST00000372099.10",
"protein_id": "ENSP00000361171.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372099.10"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "c.154-10100G>C",
"hgvs_p": null,
"transcript": "ENST00000916425.1",
"protein_id": "ENSP00000586484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916425.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"hgvs_c": "n.148G>C",
"hgvs_p": null,
"transcript": "ENST00000485692.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485692.1"
}
],
"gene_symbol": "GTF3C5",
"gene_hgnc_id": 4668,
"dbsnp": "rs1410800788",
"frequency_reference_population": 0.0000012394692,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84253e-7,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6724469065666199,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9819999933242798,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.275,
"revel_prediction": "Benign",
"alphamissense_score": 0.3646,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.359,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.999747979812798,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001122823.2",
"gene_symbol": "GTF3C5",
"hgnc_id": 4668,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala"
}
],
"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
}