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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: 12-8838343-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8838343&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8838343,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_144670.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Lys288Arg",
"transcript": "NM_144670.6",
"protein_id": "NP_653271.3",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1454,
"cds_start": 863,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "ENST00000299698.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Lys288Arg",
"transcript": "ENST00000299698.12",
"protein_id": "ENSP00000299698.7",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 1454,
"cds_start": 863,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "NM_144670.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Lys288Arg",
"transcript": "XM_011520566.3",
"protein_id": "XP_011518868.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1467,
"cds_start": 863,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Lys288Arg",
"transcript": "XM_011520567.3",
"protein_id": "XP_011518869.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1467,
"cds_start": 863,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Lys288Arg",
"transcript": "XM_017018869.2",
"protein_id": "XP_016874358.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1466,
"cds_start": 863,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Lys288Arg",
"transcript": "XM_017018870.2",
"protein_id": "XP_016874359.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1454,
"cds_start": 863,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Lys288Arg",
"transcript": "XM_047428387.1",
"protein_id": "XP_047284343.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 1453,
"cds_start": 863,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "n.894A>G",
"hgvs_p": null,
"transcript": "XR_001748594.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "n.894A>G",
"hgvs_p": null,
"transcript": "XR_931275.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"dbsnp": "rs75617691",
"frequency_reference_population": 0.0004488358,
"hom_count_reference_population": 5,
"allele_count_reference_population": 724,
"gnomad_exomes_af": 0.000245075,
"gnomad_genomes_af": 0.0024034,
"gnomad_exomes_ac": 358,
"gnomad_genomes_ac": 366,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003307729959487915,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0765,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.438,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_144670.6",
"gene_symbol": "A2ML1",
"hgnc_id": 23336,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.863A>G",
"hgvs_p": "p.Lys288Arg"
}
],
"clinvar_disease": "A2ML1-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:4",
"phenotype_combined": "not specified|not provided|A2ML1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}