← Back to variant description
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: 5-6748547-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=6748547&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 6748547,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006999.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Met",
"transcript": "NM_006999.6",
"protein_id": "NP_008930.2",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 792,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": "ENST00000230859.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006999.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Met",
"transcript": "ENST00000230859.8",
"protein_id": "ENSP00000230859.7",
"transcript_support_level": 1,
"aa_start": 515,
"aa_end": null,
"aa_length": 792,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": "NM_006999.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230859.8"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "n.524G>A",
"hgvs_p": null,
"transcript": "ENST00000514697.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000514697.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Met",
"transcript": "NM_001171805.3",
"protein_id": "NP_001165276.2",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 791,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171805.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Met",
"transcript": "ENST00000932304.1",
"protein_id": "ENSP00000602363.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 791,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 5168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932304.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Val472Met",
"transcript": "ENST00000932305.1",
"protein_id": "ENSP00000602364.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 749,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932305.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Met",
"transcript": "ENST00000955123.1",
"protein_id": "ENSP00000625182.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 737,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955123.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Val436Met",
"transcript": "ENST00000955124.1",
"protein_id": "ENSP00000625183.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 713,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955124.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Val265Met",
"transcript": "ENST00000631941.2",
"protein_id": "ENSP00000488642.1",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 542,
"cds_start": 793,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000631941.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Val265Met",
"transcript": "XM_047416664.1",
"protein_id": "XP_047272620.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 542,
"cds_start": 793,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 4059,
"cdna_end": null,
"cdna_length": 6994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416664.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Val265Met",
"transcript": "XM_047416665.1",
"protein_id": "XP_047272621.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 542,
"cds_start": 793,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416665.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Val265Met",
"transcript": "XM_047416666.1",
"protein_id": "XP_047272622.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 542,
"cds_start": 793,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 3288,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416666.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met",
"transcript": "XM_017008988.3",
"protein_id": "XP_016864477.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 533,
"cds_start": 766,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 12409,
"cdna_end": null,
"cdna_length": 15344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008988.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met",
"transcript": "XM_047416667.1",
"protein_id": "XP_047272623.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 533,
"cds_start": 766,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416667.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Val256Met",
"transcript": "XM_047416668.1",
"protein_id": "XP_047272624.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 532,
"cds_start": 766,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 12409,
"cdna_end": null,
"cdna_length": 15341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416668.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"hgvs_c": "n.597G>A",
"hgvs_p": null,
"transcript": "ENST00000511764.5",
"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": 741,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511764.5"
}
],
"gene_symbol": "TENT4A",
"gene_hgnc_id": 16705,
"dbsnp": "rs756358277",
"frequency_reference_population": 0.0000030979088,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273651,
"gnomad_genomes_af": 0.00000656702,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7087862491607666,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.347,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7844,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.551,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006999.6",
"gene_symbol": "TENT4A",
"hgnc_id": 16705,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Met"
}
],
"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
}