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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: 11-102715329-GTC-ATA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=102715329&ref=GTC&alt=ATA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MMP8",
"hgnc_id": 7175,
"hgvs_c": "c.1009_1011delGACinsTAT",
"hgvs_p": "p.Asp337Tyr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002424.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ATA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002424.3",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.1009_1011delGACinsTAT",
"hgvs_p": "p.Asp337Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000236826.8",
"protein_coding": true,
"protein_id": "NP_002415.1",
"strand": false,
"transcript": "NM_002424.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 467,
"aa_ref": "D",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000236826.8",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.1009_1011delGACinsTAT",
"hgvs_p": "p.Asp337Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002424.3",
"protein_coding": true,
"protein_id": "ENSP00000236826.3",
"strand": false,
"transcript": "ENST00000236826.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 444,
"aa_ref": "D",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1335,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001304441.2",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.940_942delGACinsTAT",
"hgvs_p": "p.Asp314Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291370.1",
"strand": false,
"transcript": "NM_001304441.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 444,
"aa_ref": "D",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1335,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001304442.2",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.940_942delGACinsTAT",
"hgvs_p": "p.Asp314Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291371.1",
"strand": false,
"transcript": "NM_001304442.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 343,
"aa_ref": "D",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1032,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438475.2",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.934_936delGACinsTAT",
"hgvs_p": "p.Asp312Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401004.2",
"strand": false,
"transcript": "ENST00000438475.2",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 476,
"aa_ref": "D",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3122,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542834.3",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.1036_1038delGACinsTAT",
"hgvs_p": "p.Asp346Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541136.1",
"strand": false,
"transcript": "XM_011542834.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 444,
"aa_ref": "D",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1335,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542835.3",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.940_942delGACinsTAT",
"hgvs_p": "p.Asp314Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541137.1",
"strand": false,
"transcript": "XM_011542835.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 444,
"aa_ref": "D",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1335,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426965.1",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.940_942delGACinsTAT",
"hgvs_p": "p.Asp314Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282921.1",
"strand": false,
"transcript": "XM_047426965.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 377,
"aa_ref": "D",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1305,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1134,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426966.1",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "c.1036_1038delGACinsTAT",
"hgvs_p": "p.Asp346Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282922.1",
"strand": false,
"transcript": "XM_047426966.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000528662.6",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "n.*986_*988delGACinsTAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431431.2",
"strand": false,
"transcript": "ENST00000528662.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000528662.6",
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"hgvs_c": "n.*986_*988delGACinsTAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431431.2",
"strand": false,
"transcript": "ENST00000528662.6",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7175,
"gene_symbol": "MMP8",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": 1.698,
"pos": 102715329,
"ref": "GTC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_002424.3"
}
]
}