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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: 11-94768531-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=94768531&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PP2",
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AMOTL1",
"hgnc_id": 17811,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -5,
"transcript": "NM_130847.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate,BS2",
"acmg_score": -5,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.3068,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16367638111114502,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8980,
"cdna_start": 176,
"cds_end": null,
"cds_length": 2871,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_130847.3",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000433060.3",
"protein_coding": true,
"protein_id": "NP_570899.1",
"strand": true,
"transcript": "NM_130847.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 956,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8980,
"cdna_start": 176,
"cds_end": null,
"cds_length": 2871,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000433060.3",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_130847.3",
"protein_coding": true,
"protein_id": "ENSP00000387739.2",
"strand": true,
"transcript": "ENST00000433060.3",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 906,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8844,
"cdna_start": 190,
"cds_end": null,
"cds_length": 2721,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000317829.12",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000320968.8",
"strand": true,
"transcript": "ENST00000317829.12",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 928,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 45,
"cds_end": null,
"cds_length": 2787,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920894.1",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590953.1",
"strand": true,
"transcript": "ENST00000920894.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 906,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8830,
"cdna_start": 176,
"cds_end": null,
"cds_length": 2721,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001301007.2",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287936.1",
"strand": true,
"transcript": "NM_001301007.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 878,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 211,
"cds_end": null,
"cds_length": 2637,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000892663.1",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562722.1",
"strand": true,
"transcript": "ENST00000892663.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 864,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7151,
"cdna_start": 216,
"cds_end": null,
"cds_length": 2595,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000892662.1",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562721.1",
"strand": true,
"transcript": "ENST00000892662.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 814,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 216,
"cds_end": null,
"cds_length": 2445,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000957744.1",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627803.1",
"strand": true,
"transcript": "ENST00000957744.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 648,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 176,
"cds_end": null,
"cds_length": 1947,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047426451.1",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282407.1",
"strand": true,
"transcript": "XM_047426451.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 176,
"cds_end": null,
"cds_length": 1797,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047426453.1",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282409.1",
"strand": true,
"transcript": "XM_047426453.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 144,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": 436,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000299004.13",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.137-26480G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299004.9",
"strand": true,
"transcript": "ENST00000299004.13",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 985,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9099,
"cdna_start": null,
"cds_end": null,
"cds_length": 2958,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005273798.5",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.137-26480G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005273855.1",
"strand": true,
"transcript": "XM_005273798.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 935,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8949,
"cdna_start": null,
"cds_end": null,
"cds_length": 2808,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542626.3",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.136+27543G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540928.1",
"strand": true,
"transcript": "XM_011542626.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 677,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": null,
"cds_end": null,
"cds_length": 2034,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006718772.4",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.137-26480G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718835.1",
"strand": true,
"transcript": "XM_006718772.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 613,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": null,
"cds_end": null,
"cds_length": 1842,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426452.1",
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"hgvs_c": "c.94+27543G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282408.1",
"strand": true,
"transcript": "XM_047426452.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs373449240",
"effect": "missense_variant",
"frequency_reference_population": 0.0000049940386,
"gene_hgnc_id": 17811,
"gene_symbol": "AMOTL1",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000482798,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657774,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.693,
"pos": 94768531,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.058,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_130847.3"
}
]
}