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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: 1-167055732-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=167055732&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "GPA33",
"hgnc_id": 4445,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_005814.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000227907",
"hgnc_id": 58358,
"hgvs_c": "n.959G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000762841.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GPA33-AS1",
"hgnc_id": 58358,
"hgvs_c": "n.83-2575G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_922249.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1507,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07549318671226501,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 319,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 779,
"cds_end": null,
"cds_length": 960,
"cds_start": 689,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005814.3",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367868.4",
"protein_coding": true,
"protein_id": "NP_005805.1",
"strand": false,
"transcript": "NM_005814.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 319,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 779,
"cds_end": null,
"cds_length": 960,
"cds_start": 689,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367868.4",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005814.3",
"protein_coding": true,
"protein_id": "ENSP00000356842.3",
"strand": false,
"transcript": "ENST00000367868.4",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 383,
"aa_ref": "S",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 971,
"cds_end": null,
"cds_length": 1152,
"cds_start": 881,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903072.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.881C>T",
"hgvs_p": "p.Ser294Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573131.1",
"strand": false,
"transcript": "ENST00000903072.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 381,
"aa_ref": "S",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1146,
"cds_start": 875,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903065.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Ser292Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573124.1",
"strand": false,
"transcript": "ENST00000903065.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 354,
"aa_ref": "S",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1065,
"cds_start": 794,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903068.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Ser265Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573127.1",
"strand": false,
"transcript": "ENST00000903068.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 346,
"aa_ref": "S",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1041,
"cds_start": 770,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903066.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Ser257Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573125.1",
"strand": false,
"transcript": "ENST00000903066.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 344,
"aa_ref": "S",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1035,
"cds_start": 764,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903070.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.764C>T",
"hgvs_p": "p.Ser255Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573129.1",
"strand": false,
"transcript": "ENST00000903070.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 340,
"aa_ref": "S",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1023,
"cds_start": 752,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903067.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Ser251Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573126.1",
"strand": false,
"transcript": "ENST00000903067.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 335,
"aa_ref": "S",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1008,
"cds_start": 737,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000903071.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ser246Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573130.1",
"strand": false,
"transcript": "ENST00000903071.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 319,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": 779,
"cds_end": null,
"cds_length": 960,
"cds_start": 689,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903063.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573122.1",
"strand": false,
"transcript": "ENST00000903063.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 313,
"aa_ref": "S",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 761,
"cds_end": null,
"cds_length": 942,
"cds_start": 671,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903069.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573128.1",
"strand": false,
"transcript": "ENST00000903069.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 267,
"aa_ref": "S",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 837,
"cds_end": null,
"cds_length": 804,
"cds_start": 533,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903064.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Ser178Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573123.1",
"strand": false,
"transcript": "ENST00000903064.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 211,
"aa_ref": "S",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 846,
"cds_end": null,
"cds_length": 636,
"cds_start": 365,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017000005.2",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Ser122Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855494.1",
"strand": false,
"transcript": "XM_017000005.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 211,
"aa_ref": "S",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 954,
"cds_end": null,
"cds_length": 636,
"cds_start": 365,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047424480.1",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Ser122Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280436.1",
"strand": false,
"transcript": "XM_047424480.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000527955.5",
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"hgvs_c": "n.780C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000527955.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000762841.1",
"gene_hgnc_id": 58358,
"gene_symbol": "ENSG00000227907",
"hgvs_c": "n.959G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000762841.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417644.2",
"gene_hgnc_id": 58358,
"gene_symbol": "ENSG00000227907",
"hgvs_c": "n.288-2575G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000417644.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000762840.1",
"gene_hgnc_id": 58358,
"gene_symbol": "ENSG00000227907",
"hgvs_c": "n.264-592G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000762840.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 682,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_922249.3",
"gene_hgnc_id": 58358,
"gene_symbol": "GPA33-AS1",
"hgvs_c": "n.83-2575G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_922249.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.0013063522552184,
"dbsnp": "rs759884708",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.0000030981546,
"gene_hgnc_id": 4445,
"gene_symbol": "GPA33",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.0000013683,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197109,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.042,
"pos": 167055732,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.023,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.041999999433755875,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_005814.3"
}
]
}