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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: 18-24449904-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=24449904&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 24449904,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018439.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.845A>G",
"hgvs_p": "p.Asn282Ser",
"transcript": "NM_018439.4",
"protein_id": "NP_060909.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 320,
"cds_start": 845,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000284202.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018439.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.845A>G",
"hgvs_p": "p.Asn282Ser",
"transcript": "ENST00000284202.9",
"protein_id": "ENSP00000284202.4",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 320,
"cds_start": 845,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018439.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000284202.9"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "n.2081A>G",
"hgvs_p": null,
"transcript": "ENST00000580706.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000580706.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.845A>G",
"hgvs_p": "p.Asn282Ser",
"transcript": "ENST00000648078.1",
"protein_id": "ENSP00000497783.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 332,
"cds_start": 845,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648078.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.851A>G",
"hgvs_p": "p.Asn284Ser",
"transcript": "ENST00000896353.1",
"protein_id": "ENSP00000566412.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 322,
"cds_start": 851,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896353.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.842A>G",
"hgvs_p": "p.Asn281Ser",
"transcript": "ENST00000896355.1",
"protein_id": "ENSP00000566414.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 319,
"cds_start": 842,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896355.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.794A>G",
"hgvs_p": "p.Asn265Ser",
"transcript": "ENST00000896352.1",
"protein_id": "ENSP00000566411.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 303,
"cds_start": 794,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896352.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Asn261Ser",
"transcript": "ENST00000896354.1",
"protein_id": "ENSP00000566413.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 299,
"cds_start": 782,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896354.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.Asn239Ser",
"transcript": "ENST00000936943.1",
"protein_id": "ENSP00000607002.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 277,
"cds_start": 716,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936943.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"hgvs_c": "c.131A>G",
"hgvs_p": "p.Asn44Ser",
"transcript": "ENST00000581278.1",
"protein_id": "ENSP00000463895.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 106,
"cds_start": 131,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581278.1"
}
],
"gene_symbol": "IMPACT",
"gene_hgnc_id": 20387,
"dbsnp": "rs370883472",
"frequency_reference_population": 0.000008054692,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000752545,
"gnomad_genomes_af": 0.0000131354,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6387513279914856,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.412,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.182,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.08,
"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_018439.4",
"gene_symbol": "IMPACT",
"hgnc_id": 20387,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.845A>G",
"hgvs_p": "p.Asn282Ser"
}
],
"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
}