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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: 7-93197591-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=93197591&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 93197591,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001288804.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.1032G>T",
"hgvs_p": "p.Gln344His",
"transcript": "NM_001039372.4",
"protein_id": "NP_001034461.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 462,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394468.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039372.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.1032G>T",
"hgvs_p": "p.Gln344His",
"transcript": "ENST00000394468.7",
"protein_id": "ENSP00000377980.2",
"transcript_support_level": 2,
"aa_start": 344,
"aa_end": null,
"aa_length": 462,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039372.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394468.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Gln332His",
"transcript": "ENST00000440868.5",
"protein_id": "ENSP00000389592.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 455,
"cds_start": 996,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440868.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Gln332His",
"transcript": "ENST00000341723.8",
"protein_id": "ENSP00000340532.4",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 450,
"cds_start": 996,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341723.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Gln367His",
"transcript": "NM_001288804.3",
"protein_id": "NP_001275733.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 485,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288804.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Gln367His",
"transcript": "ENST00000453812.2",
"protein_id": "ENSP00000390204.2",
"transcript_support_level": 2,
"aa_start": 367,
"aa_end": null,
"aa_length": 485,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453812.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.1065G>T",
"hgvs_p": "p.Gln355His",
"transcript": "ENST00000890314.1",
"protein_id": "ENSP00000560373.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 473,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890314.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Gln332His",
"transcript": "NM_001288810.3",
"protein_id": "NP_001275739.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 455,
"cds_start": 996,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288810.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Gln332His",
"transcript": "NM_198151.4",
"protein_id": "NP_937794.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 450,
"cds_start": 996,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198151.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.807G>T",
"hgvs_p": "p.Gln269His",
"transcript": "NM_001346642.2",
"protein_id": "NP_001333571.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 387,
"cds_start": 807,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346642.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "c.807G>T",
"hgvs_p": "p.Gln269His",
"transcript": "XM_011516001.3",
"protein_id": "XP_011514303.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 387,
"cds_start": 807,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516001.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"hgvs_c": "n.155G>T",
"hgvs_p": null,
"transcript": "ENST00000492616.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000492616.1"
}
],
"gene_symbol": "HEPACAM2",
"gene_hgnc_id": 27364,
"dbsnp": "rs868854412",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20075932145118713,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.2093,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.285,
"phylop100way_prediction": "Benign",
"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": 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": "NM_001288804.3",
"gene_symbol": "HEPACAM2",
"hgnc_id": 27364,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Gln367His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}