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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: 20-62860142-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62860142&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62860142,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000335351.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "NM_006602.4",
"protein_id": "NP_006593.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 500,
"cds_start": 814,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": "ENST00000335351.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "ENST00000335351.8",
"protein_id": "ENSP00000334294.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 500,
"cds_start": 814,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": "NM_006602.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Asn224Asp",
"transcript": "ENST00000217162.5",
"protein_id": "ENSP00000217162.5",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 483,
"cds_start": 670,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "NM_001301726.2",
"protein_id": "NP_001288655.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 814,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_024451808.2",
"protein_id": "XP_024307576.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 531,
"cds_start": 814,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_011528497.4",
"protein_id": "XP_011526799.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 530,
"cds_start": 814,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_005260185.5",
"protein_id": "XP_005260242.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 499,
"cds_start": 814,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_024451809.2",
"protein_id": "XP_024307577.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 468,
"cds_start": 814,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_047439838.1",
"protein_id": "XP_047295794.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 467,
"cds_start": 814,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_024451810.2",
"protein_id": "XP_024307578.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 463,
"cds_start": 814,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_024451811.2",
"protein_id": "XP_024307579.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 462,
"cds_start": 814,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_024451812.2",
"protein_id": "XP_024307580.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 426,
"cds_start": 814,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp",
"transcript": "XM_024451813.2",
"protein_id": "XP_024307581.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 317,
"cds_start": 814,
"cds_end": null,
"cds_length": 954,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.133A>G",
"hgvs_p": "p.Asn45Asp",
"transcript": "XM_047439840.1",
"protein_id": "XP_047295796.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 273,
"cds_start": 133,
"cds_end": null,
"cds_length": 822,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "n.966A>G",
"hgvs_p": null,
"transcript": "XR_007067444.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.*159A>G",
"hgvs_p": null,
"transcript": "XM_047439839.1",
"protein_id": "XP_047295795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"dbsnp": "rs17854409",
"frequency_reference_population": 0.08366542,
"hom_count_reference_population": 6760,
"allele_count_reference_population": 134576,
"gnomad_exomes_af": 0.080179,
"gnomad_genomes_af": 0.117008,
"gnomad_exomes_ac": 116759,
"gnomad_genomes_ac": 17817,
"gnomad_exomes_homalt": 5444,
"gnomad_genomes_homalt": 1316,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0008484423160552979,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.1338,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.523,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000335351.8",
"gene_symbol": "TCFL5",
"hgnc_id": 11646,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Asn272Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}