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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: 3-134358620-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134358620&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134358620,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001278683.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2204C>A",
"hgvs_p": "p.Pro735Gln",
"transcript": "NM_016201.4",
"protein_id": "NP_057285.3",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 780,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 4868,
"mane_select": "ENST00000249883.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016201.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2204C>A",
"hgvs_p": "p.Pro735Gln",
"transcript": "ENST00000249883.10",
"protein_id": "ENSP00000249883.5",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 780,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 4868,
"mane_select": "NM_016201.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249883.10"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2195C>A",
"hgvs_p": "p.Pro732Gln",
"transcript": "ENST00000513145.1",
"protein_id": "ENSP00000425475.1",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 777,
"cds_start": 2195,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513145.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2375C>A",
"hgvs_p": "p.Pro792Gln",
"transcript": "NM_001278683.1",
"protein_id": "NP_001265612.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 837,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278683.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2375C>A",
"hgvs_p": "p.Pro792Gln",
"transcript": "ENST00000514516.5",
"protein_id": "ENSP00000424765.1",
"transcript_support_level": 2,
"aa_start": 792,
"aa_end": null,
"aa_length": 837,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514516.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2204C>A",
"hgvs_p": "p.Pro735Gln",
"transcript": "ENST00000873115.1",
"protein_id": "ENSP00000543174.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 780,
"cds_start": 2204,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873115.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2201C>A",
"hgvs_p": "p.Pro734Gln",
"transcript": "NM_001363943.2",
"protein_id": "NP_001350872.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 779,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363943.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2201C>A",
"hgvs_p": "p.Pro734Gln",
"transcript": "ENST00000422605.6",
"protein_id": "ENSP00000409999.2",
"transcript_support_level": 5,
"aa_start": 734,
"aa_end": null,
"aa_length": 779,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422605.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "c.2195C>A",
"hgvs_p": "p.Pro732Gln",
"transcript": "NM_001278685.2",
"protein_id": "NP_001265614.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 777,
"cds_start": 2195,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278685.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"hgvs_c": "n.1577C>A",
"hgvs_p": null,
"transcript": "ENST00000506326.1",
"protein_id": null,
"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": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000506326.1"
}
],
"gene_symbol": "AMOTL2",
"gene_hgnc_id": 17812,
"dbsnp": "rs760059061",
"frequency_reference_population": 0.000010534495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000547366,
"gnomad_genomes_af": 0.0000591327,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.059516727924346924,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.223,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001278683.1",
"gene_symbol": "AMOTL2",
"hgnc_id": 17812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2375C>A",
"hgvs_p": "p.Pro792Gln"
}
],
"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
}