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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: 2-70683683-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70683683&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70683683,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001617.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_001617.4",
"protein_id": "NP_001608.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 726,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 9290,
"mane_select": "ENST00000264436.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000264436.9",
"protein_id": "ENSP00000264436.3",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 726,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 9290,
"mane_select": "NM_001617.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000407644.6",
"protein_id": "ENSP00000384677.2",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 726,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000355733.7",
"protein_id": "ENSP00000347972.3",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 643,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Val361Met",
"transcript": "ENST00000430656.5",
"protein_id": "ENSP00000398112.1",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 575,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000413157.6",
"protein_id": "ENSP00000388072.2",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 559,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_001185054.2",
"protein_id": "NP_001171983.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 726,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 9087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_017488.4",
"protein_id": "NP_059522.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 643,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 9376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Val361Met",
"transcript": "NM_001185055.2",
"protein_id": "NP_001171984.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 575,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_017482.4",
"protein_id": "NP_059516.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 559,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "XM_011532502.3",
"protein_id": "XP_011530804.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 726,
"cds_start": 1033,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 9042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "n.1033G>A",
"hgvs_p": null,
"transcript": "ENST00000403045.6",
"protein_id": "ENSP00000384303.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.849+7103G>A",
"hgvs_p": null,
"transcript": "ENST00000456320.7",
"protein_id": "ENSP00000414546.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"hgvs_c": "c.562-5902G>A",
"hgvs_p": null,
"transcript": "ENST00000522886.5",
"protein_id": "ENSP00000430243.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": -4,
"cds_end": null,
"cds_length": 839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADD2",
"gene_hgnc_id": 244,
"dbsnp": "rs782815520",
"frequency_reference_population": 0.000012313181,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000123132,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24233269691467285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.1524,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.393,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001617.4",
"gene_symbol": "ADD2",
"hgnc_id": 244,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}