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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: 1-109194441-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109194441&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109194441,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000369939.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1968C>G",
"hgvs_p": "p.Asn656Lys",
"transcript": "NM_020775.5",
"protein_id": "NP_065826.3",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 1013,
"cds_start": 1968,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "ENST00000369939.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1968C>G",
"hgvs_p": "p.Asn656Lys",
"transcript": "ENST00000369939.8",
"protein_id": "ENSP00000358955.3",
"transcript_support_level": 5,
"aa_start": 656,
"aa_end": null,
"aa_length": 1013,
"cds_start": 1968,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "NM_020775.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1707C>G",
"hgvs_p": "p.Asn569Lys",
"transcript": "ENST00000529753.5",
"protein_id": "ENSP00000434595.1",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 926,
"cds_start": 1707,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2903,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "n.1125C>G",
"hgvs_p": null,
"transcript": "ENST00000369936.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 5968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1707C>G",
"hgvs_p": "p.Asn569Lys",
"transcript": "NM_001267048.2",
"protein_id": "NP_001253977.2",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 926,
"cds_start": 1707,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1662C>G",
"hgvs_p": "p.Asn554Lys",
"transcript": "NM_001284352.2",
"protein_id": "NP_001271281.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 902,
"cds_start": 1662,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1818C>G",
"hgvs_p": "p.Asn606Lys",
"transcript": "ENST00000457623.6",
"protein_id": "ENSP00000393964.2",
"transcript_support_level": 5,
"aa_start": 606,
"aa_end": null,
"aa_length": 900,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2705,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.954C>G",
"hgvs_p": "p.Asn318Lys",
"transcript": "NM_001284353.2",
"protein_id": "NP_001271282.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 675,
"cds_start": 954,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2049,
"cdna_end": null,
"cdna_length": 6892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1968C>G",
"hgvs_p": "p.Asn656Lys",
"transcript": "XM_011541825.3",
"protein_id": "XP_011540127.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1968,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 6911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1968C>G",
"hgvs_p": "p.Asn656Lys",
"transcript": "XM_011541826.4",
"protein_id": "XP_011540128.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 1002,
"cds_start": 1968,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1818C>G",
"hgvs_p": "p.Asn606Lys",
"transcript": "XM_011541827.3",
"protein_id": "XP_011540129.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 963,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 6730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "c.1032C>G",
"hgvs_p": "p.Asn344Lys",
"transcript": "XM_047426133.1",
"protein_id": "XP_047282089.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 701,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 6013,
"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": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "n.2049C>G",
"hgvs_p": null,
"transcript": "ENST00000369938.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3342,
"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": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "n.*1658C>G",
"hgvs_p": null,
"transcript": "ENST00000527996.5",
"protein_id": "ENSP00000432023.1",
"transcript_support_level": 2,
"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": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"hgvs_c": "n.*1658C>G",
"hgvs_p": null,
"transcript": "ENST00000527996.5",
"protein_id": "ENSP00000432023.1",
"transcript_support_level": 2,
"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": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELAPOR1",
"gene_hgnc_id": 29618,
"dbsnp": "rs2359246",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21109864115715027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.9709,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.185,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369939.8",
"gene_symbol": "ELAPOR1",
"hgnc_id": 29618,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1968C>G",
"hgvs_p": "p.Asn656Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}