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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: 7-45916596-ACC-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=45916596&ref=ACC&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "IGFBP3",
"hgnc_id": 5472,
"hgvs_c": "c.718_720delGGTinsTCC",
"hgvs_p": "p.Gly240Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001013398.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"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": "S",
"aa_end": null,
"aa_length": 291,
"aa_ref": "G",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 834,
"cds_end": null,
"cds_length": 876,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000598.5",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.700_702delGGTinsTCC",
"hgvs_p": "p.Gly234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000613132.5",
"protein_coding": true,
"protein_id": "NP_000589.2",
"strand": false,
"transcript": "NM_000598.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 291,
"aa_ref": "G",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 834,
"cds_end": null,
"cds_length": 876,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613132.5",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.700_702delGGTinsTCC",
"hgvs_p": "p.Gly234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000598.5",
"protein_coding": true,
"protein_id": "ENSP00000477772.2",
"strand": false,
"transcript": "ENST00000613132.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 321,
"aa_ref": "G",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 924,
"cds_end": null,
"cds_length": 966,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908406.1",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.790_792delGGTinsTCC",
"hgvs_p": "p.Gly264Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578465.1",
"strand": false,
"transcript": "ENST00000908406.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 852,
"cds_end": null,
"cds_length": 894,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001013398.2",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.718_720delGGTinsTCC",
"hgvs_p": "p.Gly240Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001013416.1",
"strand": false,
"transcript": "NM_001013398.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 297,
"aa_ref": "G",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 852,
"cds_end": null,
"cds_length": 894,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381083.9",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.718_720delGGTinsTCC",
"hgvs_p": "p.Gly240Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370473.4",
"strand": false,
"transcript": "ENST00000381083.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 291,
"aa_ref": "G",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 842,
"cds_end": null,
"cds_length": 876,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908403.1",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.700_702delGGTinsTCC",
"hgvs_p": "p.Gly234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578462.1",
"strand": false,
"transcript": "ENST00000908403.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 291,
"aa_ref": "G",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 834,
"cds_end": null,
"cds_length": 876,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908405.1",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.700_702delGGTinsTCC",
"hgvs_p": "p.Gly234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578464.1",
"strand": false,
"transcript": "ENST00000908405.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 194,
"aa_ref": "G",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 543,
"cds_end": null,
"cds_length": 585,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381086.9",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.409_411delGGTinsTCC",
"hgvs_p": "p.Gly137Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370476.4",
"strand": false,
"transcript": "ENST00000381086.9",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 152,
"aa_ref": "G",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 810,
"cdna_start": 286,
"cds_end": null,
"cds_length": 459,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417621.5",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.283_285delGGTinsTCC",
"hgvs_p": "p.Gly95Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399116.1",
"strand": false,
"transcript": "ENST00000417621.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 142,
"aa_ref": "G",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 257,
"cds_end": null,
"cds_length": 429,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428530.5",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.253_255delGGTinsTCC",
"hgvs_p": "p.Gly85Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390298.1",
"strand": false,
"transcript": "ENST00000428530.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 131,
"aa_ref": "G",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": 547,
"cds_end": null,
"cds_length": 396,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448817.1",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.370_372delGGTinsTCC",
"hgvs_p": "p.Gly124Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389668.1",
"strand": false,
"transcript": "ENST00000448817.1",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 291,
"aa_ref": "G",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1576,
"cdna_start": 834,
"cds_end": null,
"cds_length": 876,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420325.1",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.700_702delGGTinsTCC",
"hgvs_p": "p.Gly234Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276281.1",
"strand": false,
"transcript": "XM_047420325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 251,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": null,
"cds_end": null,
"cds_length": 756,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908404.1",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "c.630+615_630+617delGGTinsTCC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578463.1",
"strand": false,
"transcript": "ENST00000908404.1",
"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": 663,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000465642.1",
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"hgvs_c": "n.*23_*25delGGTinsTCC",
"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": "ENST00000465642.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 5472,
"gene_symbol": "IGFBP3",
"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": "Uncertain_significance",
"phylop100way_score": 4.645,
"pos": 45916596,
"ref": "ACC",
"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_001013398.2"
}
]
}