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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: 2-70465715-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70465715&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70465715,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001308158.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Ala39Val",
"transcript": "NM_003236.4",
"protein_id": "NP_003227.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 160,
"cds_start": 116,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295400.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003236.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Ala39Val",
"transcript": "ENST00000295400.11",
"protein_id": "ENSP00000295400.6",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 160,
"cds_start": 116,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003236.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295400.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Ala45Val",
"transcript": "ENST00000444975.5",
"protein_id": "ENSP00000404131.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 166,
"cds_start": 134,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444975.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"transcript": "ENST00000450929.5",
"protein_id": "ENSP00000414127.1",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 165,
"cds_start": 131,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450929.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ala38Val",
"transcript": "ENST00000445399.5",
"protein_id": "ENSP00000387493.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 161,
"cds_start": 113,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445399.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ala38Val",
"transcript": "ENST00000418333.6",
"protein_id": "ENSP00000404099.2",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 159,
"cds_start": 113,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418333.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Ala45Val",
"transcript": "NM_001308158.2",
"protein_id": "NP_001295087.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 166,
"cds_start": 134,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308158.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Ala44Val",
"transcript": "NM_001308159.2",
"protein_id": "NP_001295088.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 165,
"cds_start": 131,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308159.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ala38Val",
"transcript": "NM_001099691.3",
"protein_id": "NP_001093161.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 159,
"cds_start": 113,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099691.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000869601.1",
"protein_id": "ENSP00000539660.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 141,
"cds_start": 59,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869601.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000419940.5",
"protein_id": "ENSP00000407432.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 130,
"cds_start": 17,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419940.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ala38Val",
"transcript": "ENST00000394241.3",
"protein_id": "ENSP00000377787.3",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 119,
"cds_start": 113,
"cds_end": null,
"cds_length": 362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394241.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Ala39Val",
"transcript": "ENST00000869602.1",
"protein_id": "ENSP00000539661.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 110,
"cds_start": 116,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869602.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Ala38Val",
"transcript": "ENST00000869603.1",
"protein_id": "ENSP00000539662.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 109,
"cds_start": 113,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFA",
"gene_hgnc_id": 11765,
"hgvs_c": "n.175C>T",
"hgvs_p": null,
"transcript": "ENST00000460808.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000460808.5"
}
],
"gene_symbol": "TGFA",
"gene_hgnc_id": 11765,
"dbsnp": "rs373378868",
"frequency_reference_population": 0.0000030978897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273627,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44569021463394165,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.5823,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.119,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001308158.2",
"gene_symbol": "TGFA",
"hgnc_id": 11765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Ala45Val"
}
],
"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
}