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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: 7-2700508-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2700508&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "AMZ1",
"hgnc_id": 22231,
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_133463.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS2",
"acmg_score": -9,
"allele_count_reference_population": 754,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 498,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8615,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1497,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001384743.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683327.1",
"protein_coding": true,
"protein_id": "NP_001371672.1",
"strand": true,
"transcript": "NM_001384743.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 498,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8615,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1497,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683327.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001384743.1",
"protein_coding": true,
"protein_id": "ENSP00000506962.1",
"strand": true,
"transcript": "ENST00000683327.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 498,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5516,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1497,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000312371.8",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308149.4",
"strand": true,
"transcript": "ENST00000312371.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 498,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8670,
"cdna_start": 425,
"cds_end": null,
"cds_length": 1497,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_133463.4",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_597720.1",
"strand": true,
"transcript": "NM_133463.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 498,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1497,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880040.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550099.1",
"strand": true,
"transcript": "ENST00000880040.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 498,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": 437,
"cds_end": null,
"cds_length": 1497,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000954549.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624608.1",
"strand": true,
"transcript": "ENST00000954549.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 475,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8546,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1428,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001384739.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371668.1",
"strand": true,
"transcript": "NM_001384739.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 475,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1428,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880039.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550098.1",
"strand": true,
"transcript": "ENST00000880039.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 475,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 383,
"cds_end": null,
"cds_length": 1428,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880041.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550100.1",
"strand": true,
"transcript": "ENST00000880041.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1329,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880042.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550101.1",
"strand": true,
"transcript": "ENST00000880042.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 421,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1266,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001384740.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371669.1",
"strand": true,
"transcript": "NM_001384740.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 330,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 370,
"cds_end": null,
"cds_length": 993,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001321766.2",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308695.1",
"strand": true,
"transcript": "NM_001321766.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 298,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 425,
"cds_end": null,
"cds_length": 897,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001384742.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371671.1",
"strand": true,
"transcript": "NM_001384742.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 297,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8445,
"cdna_start": 370,
"cds_end": null,
"cds_length": 894,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001284355.4",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271284.1",
"strand": true,
"transcript": "NM_001284355.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 297,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 370,
"cds_end": null,
"cds_length": 894,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000407112.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386020.1",
"strand": true,
"transcript": "ENST00000407112.1",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 266,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 370,
"cds_end": null,
"cds_length": 801,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001384741.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371670.1",
"strand": true,
"transcript": "NM_001384741.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 308,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 425,
"cds_end": null,
"cds_length": 927,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011515151.4",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513453.1",
"strand": true,
"transcript": "XM_011515151.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 308,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 370,
"cds_end": null,
"cds_length": 927,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017011774.3",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867263.1",
"strand": true,
"transcript": "XM_017011774.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 297,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8500,
"cdna_start": 425,
"cds_end": null,
"cds_length": 894,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047419926.1",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275882.1",
"strand": true,
"transcript": "XM_047419926.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "D",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 425,
"cds_end": null,
"cds_length": 822,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017011776.2",
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"hgvs_c": "c.57C>T",
"hgvs_p": "p.Asp19Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867265.1",
"strand": true,
"transcript": "XM_017011776.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs555064289",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000469369,
"gene_hgnc_id": 22231,
"gene_symbol": "AMZ1",
"gnomad_exomes_ac": 708,
"gnomad_exomes_af": 0.000486895,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_ac": 46,
"gnomad_genomes_af": 0.000302035,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 8,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.038,
"pos": 2700508,
"ref": "C",
"revel_prediction": null,
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