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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: 5-55910616-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55910616&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 55910616,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000652347.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Ser529Thr",
"transcript": "NM_139017.7",
"protein_id": "NP_620586.3",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 764,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 8239,
"mane_select": "ENST00000652347.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Ser529Thr",
"transcript": "ENST00000652347.2",
"protein_id": "ENSP00000498630.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 764,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 8239,
"mane_select": "NM_139017.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Ser529Thr",
"transcript": "ENST00000359040.10",
"protein_id": "ENSP00000351935.5",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 681,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Ser387Thr",
"transcript": "ENST00000490985.5",
"protein_id": "ENSP00000427533.1",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 622,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 2414,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "n.*1737G>C",
"hgvs_p": null,
"transcript": "ENST00000396834.6",
"protein_id": "ENSP00000380046.2",
"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": 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": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "n.*1737G>C",
"hgvs_p": null,
"transcript": "ENST00000396834.6",
"protein_id": "ENSP00000380046.2",
"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": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1529G>C",
"hgvs_p": "p.Ser510Thr",
"transcript": "NM_001242636.2",
"protein_id": "NP_001229565.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 745,
"cds_start": 1529,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 8113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1529G>C",
"hgvs_p": "p.Ser510Thr",
"transcript": "ENST00000297015.7",
"protein_id": "ENSP00000297015.4",
"transcript_support_level": 5,
"aa_start": 510,
"aa_end": null,
"aa_length": 745,
"cds_start": 1529,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1514G>C",
"hgvs_p": "p.Ser505Thr",
"transcript": "ENST00000652039.2",
"protein_id": "ENSP00000498914.2",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 740,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Ser529Thr",
"transcript": "NM_001242637.2",
"protein_id": "NP_001229566.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 681,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1529G>C",
"hgvs_p": "p.Ser510Thr",
"transcript": "NM_001242638.2",
"protein_id": "NP_001229567.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 662,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1529G>C",
"hgvs_p": "p.Ser510Thr",
"transcript": "ENST00000354961.8",
"protein_id": "ENSP00000347047.4",
"transcript_support_level": 5,
"aa_start": 510,
"aa_end": null,
"aa_length": 662,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Ser387Thr",
"transcript": "NM_001242639.2",
"protein_id": "NP_001229568.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 622,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1490G>C",
"hgvs_p": "p.Ser497Thr",
"transcript": "XM_011543142.3",
"protein_id": "XP_011541444.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 732,
"cds_start": 1490,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 8595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Ser387Thr",
"transcript": "XM_047416700.1",
"protein_id": "XP_047272656.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 622,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 7833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1076G>C",
"hgvs_p": "p.Ser359Thr",
"transcript": "XM_011543145.2",
"protein_id": "XP_011541447.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 594,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 7691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Ser387Thr",
"transcript": "XM_047416701.1",
"protein_id": "XP_047272657.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 539,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL31RA",
"gene_hgnc_id": 18969,
"dbsnp": "rs161704",
"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": 0.4323234558105469,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.327,
"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": 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": "ENST00000652347.2",
"gene_symbol": "IL31RA",
"hgnc_id": 18969,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Ser529Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}