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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: 3-112011775-CA-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112011775&ref=CA&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TAGLN3",
"hgnc_id": 29868,
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_013259.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 563,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001008272.2",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000478951.6",
"protein_coding": true,
"protein_id": "NP_001008273.1",
"strand": true,
"transcript": "NM_001008272.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 563,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478951.6",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001008272.2",
"protein_coding": true,
"protein_id": "ENSP00000419105.1",
"strand": true,
"transcript": "ENST00000478951.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 785,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000273368.8",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000273368.4",
"strand": true,
"transcript": "ENST00000273368.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 602,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455401.6",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391160.2",
"strand": true,
"transcript": "ENST00000455401.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 205,
"aa_ref": "A",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1050,
"cdna_start": 483,
"cds_end": null,
"cds_length": 618,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900321.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.386_387delCAinsAG",
"hgvs_p": "p.Ala129Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570380.1",
"strand": true,
"transcript": "ENST00000900321.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1024,
"cdna_start": 458,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001008273.2",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008274.1",
"strand": true,
"transcript": "NM_001008273.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 737,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013259.3",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_037391.2",
"strand": true,
"transcript": "NM_013259.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 920,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393917.6",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377494.2",
"strand": true,
"transcript": "ENST00000393917.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 814,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900319.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570378.1",
"strand": true,
"transcript": "ENST00000900319.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 613,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000900320.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570379.1",
"strand": true,
"transcript": "ENST00000900320.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1354,
"cdna_start": 788,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941320.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611379.1",
"strand": true,
"transcript": "ENST00000941320.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": 611,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941321.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611380.1",
"strand": true,
"transcript": "ENST00000941321.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": 714,
"cds_end": null,
"cds_length": 600,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941322.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.368_369delCAinsAG",
"hgvs_p": "p.Ala123Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611381.1",
"strand": true,
"transcript": "ENST00000941322.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 115,
"aa_ref": "A",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": 358,
"cds_end": null,
"cds_length": 348,
"cds_start": 116,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000486460.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.116_117delCAinsAG",
"hgvs_p": "p.Ala39Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417904.1",
"strand": true,
"transcript": "ENST00000486460.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": 491,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000494932.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.181-1635_181-1634delCAinsAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420675.1",
"strand": true,
"transcript": "ENST00000494932.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 78,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 648,
"cdna_start": null,
"cds_end": null,
"cds_length": 237,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469385.1",
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"hgvs_c": "c.176-1635_176-1634delCAinsAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420346.1",
"strand": true,
"transcript": "ENST00000469385.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29868,
"gene_symbol": "TAGLN3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.725,
"pos": 112011775,
"ref": "CA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_013259.3"
}
]
}