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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: 20-62859408-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62859408&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 62859408,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006602.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "NM_006602.4",
"protein_id": "NP_006593.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 500,
"cds_start": 950,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335351.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006602.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "ENST00000335351.8",
"protein_id": "ENSP00000334294.3",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 500,
"cds_start": 950,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006602.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335351.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Ser269Asn",
"transcript": "ENST00000217162.5",
"protein_id": "ENSP00000217162.5",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 483,
"cds_start": 806,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217162.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "ENST00000895007.1",
"protein_id": "ENSP00000565066.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 499,
"cds_start": 950,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895007.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "NM_001301726.2",
"protein_id": "NP_001288655.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 461,
"cds_start": 950,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301726.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "XM_024451808.2",
"protein_id": "XP_024307576.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 531,
"cds_start": 950,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451808.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "XM_011528497.4",
"protein_id": "XP_011526799.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 530,
"cds_start": 950,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528497.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "XM_005260185.5",
"protein_id": "XP_005260242.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 499,
"cds_start": 950,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260185.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "XM_024451809.2",
"protein_id": "XP_024307577.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 468,
"cds_start": 950,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451809.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "XM_047439838.1",
"protein_id": "XP_047295794.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 467,
"cds_start": 950,
"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": "XM_047439838.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "XM_024451810.2",
"protein_id": "XP_024307578.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 463,
"cds_start": 950,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451810.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "XM_024451811.2",
"protein_id": "XP_024307579.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 462,
"cds_start": 950,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451811.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn",
"transcript": "XM_024451812.2",
"protein_id": "XP_024307580.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 426,
"cds_start": 950,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451812.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.269G>A",
"hgvs_p": "p.Ser90Asn",
"transcript": "XM_047439840.1",
"protein_id": "XP_047295796.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 273,
"cds_start": 269,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439840.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.841+1422G>A",
"hgvs_p": null,
"transcript": "ENST00000949323.1",
"protein_id": "ENSP00000619382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949323.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.831+717G>A",
"hgvs_p": null,
"transcript": "ENST00000895008.1",
"protein_id": "ENSP00000565067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895008.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "c.831+717G>A",
"hgvs_p": null,
"transcript": "XM_024451813.2",
"protein_id": "XP_024307581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451813.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"hgvs_c": "n.983+717G>A",
"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": 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": "XR_007067444.1"
}
],
"gene_symbol": "TCFL5",
"gene_hgnc_id": 11646,
"dbsnp": "rs751521241",
"frequency_reference_population": 0.0000018610883,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000137012,
"gnomad_genomes_af": 0.00000656875,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1986389458179474,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.47999998927116394,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.1381,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.985,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.48,
"spliceai_max_prediction": "Uncertain_significance",
"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_006602.4",
"gene_symbol": "TCFL5",
"hgnc_id": 11646,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Ser317Asn"
}
],
"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
}