← 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: 19-32756053-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=32756053&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 32756053,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001437947.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "NM_001366102.1",
"protein_id": "NP_001353031.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1330,
"cds_start": 644,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000639142.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366102.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "ENST00000639142.2",
"protein_id": "ENSP00000492643.2",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 1330,
"cds_start": 644,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366102.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639142.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "ENST00000444215.6",
"protein_id": "ENSP00000416248.2",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 1177,
"cds_start": 644,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444215.6"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "NM_001437947.1",
"protein_id": "NP_001424876.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1335,
"cds_start": 644,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437947.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "ENST00000647536.1",
"protein_id": "ENSP00000496698.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1335,
"cds_start": 644,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647536.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "NM_001438799.1",
"protein_id": "NP_001425728.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1320,
"cds_start": 644,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438799.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.524A>C",
"hgvs_p": "p.Asn175Thr",
"transcript": "NM_001438800.1",
"protein_id": "NP_001425729.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1290,
"cds_start": 524,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438800.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.524A>C",
"hgvs_p": "p.Asn175Thr",
"transcript": "NM_001438801.1",
"protein_id": "NP_001425730.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1280,
"cds_start": 524,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438801.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "NM_001110822.2",
"protein_id": "NP_001104292.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 395,
"cds_start": 644,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001110822.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "ENST00000421545.2",
"protein_id": "ENSP00000390621.2",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 395,
"cds_start": 644,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421545.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "XM_011527473.4",
"protein_id": "XP_011525775.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1325,
"cds_start": 644,
"cds_end": null,
"cds_length": 3978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527473.4"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.524A>C",
"hgvs_p": "p.Asn175Thr",
"transcript": "XM_011527474.4",
"protein_id": "XP_011525776.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1295,
"cds_start": 524,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527474.4"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "XM_011527475.3",
"protein_id": "XP_011525777.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1279,
"cds_start": 644,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527475.3"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "XM_017027458.2",
"protein_id": "XP_016882947.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1279,
"cds_start": 644,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027458.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr",
"transcript": "XM_011527476.3",
"protein_id": "XP_011525778.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 1173,
"cds_start": 644,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527476.3"
}
],
"gene_symbol": "TDRD12",
"gene_hgnc_id": 25044,
"dbsnp": "rs1019504812",
"frequency_reference_population": 0.000019552372,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000195524,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09710901975631714,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0882,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.462,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001437947.1",
"gene_symbol": "TDRD12",
"hgnc_id": 25044,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.644A>C",
"hgvs_p": "p.Asn215Thr"
}
],
"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
}