← 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: 3-44400507-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=44400507&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 44400507,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173826.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.1038T>A",
"hgvs_p": "p.Asp346Glu",
"transcript": "NM_173826.4",
"protein_id": "NP_776187.2",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 496,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342649.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173826.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.1038T>A",
"hgvs_p": "p.Asp346Glu",
"transcript": "ENST00000342649.9",
"protein_id": "ENSP00000341539.4",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 496,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173826.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342649.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "n.*614T>A",
"hgvs_p": null,
"transcript": "ENST00000412611.6",
"protein_id": "ENSP00000392032.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412611.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "n.*614T>A",
"hgvs_p": null,
"transcript": "ENST00000412611.6",
"protein_id": "ENSP00000392032.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412611.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.1038T>A",
"hgvs_p": "p.Asp346Glu",
"transcript": "NM_001282913.2",
"protein_id": "NP_001269842.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 496,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282913.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.1038T>A",
"hgvs_p": "p.Asp346Glu",
"transcript": "ENST00000417237.5",
"protein_id": "ENSP00000402581.1",
"transcript_support_level": 2,
"aa_start": 346,
"aa_end": null,
"aa_length": 496,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417237.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.1038T>A",
"hgvs_p": "p.Asp346Glu",
"transcript": "ENST00000876547.1",
"protein_id": "ENSP00000546606.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 496,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876547.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.1038T>A",
"hgvs_p": "p.Asp346Glu",
"transcript": "ENST00000876551.1",
"protein_id": "ENSP00000546610.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 496,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876551.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.1038T>A",
"hgvs_p": "p.Asp346Glu",
"transcript": "ENST00000876548.1",
"protein_id": "ENSP00000546607.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 494,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876548.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.909T>A",
"hgvs_p": "p.Asp303Glu",
"transcript": "ENST00000876549.1",
"protein_id": "ENSP00000546608.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 453,
"cds_start": 909,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876549.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.672T>A",
"hgvs_p": "p.Asp224Glu",
"transcript": "ENST00000876546.1",
"protein_id": "ENSP00000546605.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 374,
"cds_start": 672,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876546.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.672T>A",
"hgvs_p": "p.Asp224Glu",
"transcript": "ENST00000876550.1",
"protein_id": "ENSP00000546609.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 374,
"cds_start": 672,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876550.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.606T>A",
"hgvs_p": "p.Asp202Glu",
"transcript": "NM_001282914.2",
"protein_id": "NP_001269843.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 352,
"cds_start": 606,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282914.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.606T>A",
"hgvs_p": "p.Asp202Glu",
"transcript": "NM_001282915.2",
"protein_id": "NP_001269844.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 352,
"cds_start": 606,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282915.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "c.606T>A",
"hgvs_p": "p.Asp202Glu",
"transcript": "XM_047448023.1",
"protein_id": "XP_047303979.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 352,
"cds_start": 606,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448023.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "n.*614T>A",
"hgvs_p": null,
"transcript": "ENST00000417768.1",
"protein_id": "ENSP00000402604.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000417768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "n.*738T>A",
"hgvs_p": null,
"transcript": "ENST00000431657.5",
"protein_id": "ENSP00000387842.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431657.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "n.*614T>A",
"hgvs_p": null,
"transcript": "ENST00000417768.1",
"protein_id": "ENSP00000402604.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000417768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "n.*738T>A",
"hgvs_p": null,
"transcript": "ENST00000431657.5",
"protein_id": "ENSP00000387842.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431657.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"hgvs_c": "n.49-15T>A",
"hgvs_p": null,
"transcript": "ENST00000469246.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000469246.1"
}
],
"gene_symbol": "TCAIM",
"gene_hgnc_id": 25241,
"dbsnp": "rs1702005655",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03890085220336914,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1359,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.075,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_173826.4",
"gene_symbol": "TCAIM",
"hgnc_id": 25241,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1038T>A",
"hgvs_p": "p.Asp346Glu"
}
],
"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
}