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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: 19-34399273-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=34399273&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 34399273,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000356487.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1336C>G",
"hgvs_p": "p.Arg446Gly",
"transcript": "NM_000175.5",
"protein_id": "NP_000166.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 558,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": "ENST00000356487.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1336C>G",
"hgvs_p": "p.Arg446Gly",
"transcript": "ENST00000356487.11",
"protein_id": "ENSP00000348877.3",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 558,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": "NM_000175.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266953",
"gene_hgnc_id": null,
"hgvs_c": "c.192+2616C>G",
"hgvs_p": null,
"transcript": "ENST00000592740.5",
"protein_id": "ENSP00000468690.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1453C>G",
"hgvs_p": "p.Arg485Gly",
"transcript": "NM_001289789.1",
"protein_id": "NP_001276718.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 597,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1453C>G",
"hgvs_p": "p.Arg485Gly",
"transcript": "NM_001440422.1",
"protein_id": "NP_001427351.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 597,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1453C>G",
"hgvs_p": "p.Arg485Gly",
"transcript": "ENST00000415930.8",
"protein_id": "ENSP00000405573.3",
"transcript_support_level": 2,
"aa_start": 485,
"aa_end": null,
"aa_length": 597,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1369C>G",
"hgvs_p": "p.Arg457Gly",
"transcript": "NM_001184722.1",
"protein_id": "NP_001171651.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 569,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1369C>G",
"hgvs_p": "p.Arg457Gly",
"transcript": "ENST00000588991.7",
"protein_id": "ENSP00000465858.3",
"transcript_support_level": 2,
"aa_start": 457,
"aa_end": null,
"aa_length": 569,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1336C>G",
"hgvs_p": "p.Arg446Gly",
"transcript": "NM_001329909.1",
"protein_id": "NP_001316838.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 558,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1336C>G",
"hgvs_p": "p.Arg446Gly",
"transcript": "NM_001329910.1",
"protein_id": "NP_001316839.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 558,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1309C>G",
"hgvs_p": "p.Arg437Gly",
"transcript": "NM_001329911.2",
"protein_id": "NP_001316840.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 549,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1252C>G",
"hgvs_p": "p.Arg418Gly",
"transcript": "NM_001289790.3",
"protein_id": "NP_001276719.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 530,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 4041,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.1991C>G",
"hgvs_p": null,
"transcript": "ENST00000586077.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 3053,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.1074C>G",
"hgvs_p": null,
"transcript": "ENST00000586392.1",
"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": 1706,
"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": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.2381C>G",
"hgvs_p": null,
"transcript": "ENST00000643067.1",
"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": 3014,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.*387C>G",
"hgvs_p": null,
"transcript": "ENST00000647446.1",
"protein_id": "ENSP00000495129.1",
"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": 2020,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "n.*387C>G",
"hgvs_p": null,
"transcript": "ENST00000647446.1",
"protein_id": "ENSP00000495129.1",
"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": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.1156-463C>G",
"hgvs_p": null,
"transcript": "ENST00000586425.2",
"protein_id": "ENSP00000467670.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"dbsnp": "rs774419705",
"frequency_reference_population": 6.841499e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8415e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8349491357803345,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.801,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2083,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.607,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000356487.11",
"gene_symbol": "GPI",
"hgnc_id": 4458,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1336C>G",
"hgvs_p": "p.Arg446Gly"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000592740.5",
"gene_symbol": "ENSG00000266953",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.192+2616C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}