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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: 5-62483260-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=62483260&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 62483260,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001134779.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.988A>C",
"hgvs_p": "p.Asn330His",
"transcript": "NM_016338.5",
"protein_id": "NP_057422.3",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 975,
"cds_start": 988,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": "ENST00000325324.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016338.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.988A>C",
"hgvs_p": "p.Asn330His",
"transcript": "ENST00000325324.11",
"protein_id": "ENSP00000316651.6",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 975,
"cds_start": 988,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": "NM_016338.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325324.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "n.988A>C",
"hgvs_p": null,
"transcript": "ENST00000424533.5",
"protein_id": "ENSP00000395685.1",
"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": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424533.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288643",
"gene_hgnc_id": null,
"hgvs_c": "n.65-32128A>C",
"hgvs_p": null,
"transcript": "ENST00000509663.2",
"protein_id": "ENSP00000502199.1",
"transcript_support_level": 3,
"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": 759,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509663.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.1108A>C",
"hgvs_p": "p.Asn370His",
"transcript": "NM_001134779.2",
"protein_id": "NP_001128251.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1108,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134779.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.1108A>C",
"hgvs_p": "p.Asn370His",
"transcript": "ENST00000409296.7",
"protein_id": "ENSP00000386992.3",
"transcript_support_level": 2,
"aa_start": 370,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1108,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409296.7"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.988A>C",
"hgvs_p": "p.Asn330His",
"transcript": "ENST00000857349.1",
"protein_id": "ENSP00000527408.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 975,
"cds_start": 988,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857349.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.988A>C",
"hgvs_p": "p.Asn330His",
"transcript": "ENST00000857350.1",
"protein_id": "ENSP00000527409.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 975,
"cds_start": 988,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857350.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.988A>C",
"hgvs_p": "p.Asn330His",
"transcript": "ENST00000945044.1",
"protein_id": "ENSP00000615103.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 975,
"cds_start": 988,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 4791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945044.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.988A>C",
"hgvs_p": "p.Asn330His",
"transcript": "ENST00000945045.1",
"protein_id": "ENSP00000615104.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 975,
"cds_start": 988,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945045.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "c.988A>C",
"hgvs_p": "p.Asn330His",
"transcript": "ENST00000945046.1",
"protein_id": "ENSP00000615105.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 975,
"cds_start": 988,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945046.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"hgvs_c": "n.328A>C",
"hgvs_p": null,
"transcript": "ENST00000507640.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 458,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000507640.1"
}
],
"gene_symbol": "IPO11",
"gene_hgnc_id": 20628,
"dbsnp": "rs993038219",
"frequency_reference_population": 0.0000013787798,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137878,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5742936134338379,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.132,
"revel_prediction": "Benign",
"alphamissense_score": 0.4051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.848,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001134779.2",
"gene_symbol": "IPO11",
"hgnc_id": 20628,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1108A>C",
"hgvs_p": "p.Asn370His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000509663.2",
"gene_symbol": "ENSG00000288643",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.65-32128A>C",
"hgvs_p": null
}
],
"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
}