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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: 18-63782540-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63782540&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63782540,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_003784.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "NM_003784.4",
"protein_id": "NP_003775.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398019.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003784.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000398019.7",
"protein_id": "ENSP00000381101.2",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003784.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398019.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000336429.6",
"protein_id": "ENSP00000337212.2",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336429.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "NM_001040147.3",
"protein_id": "NP_001035237.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040147.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "NM_001261830.2",
"protein_id": "NP_001248759.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261830.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000546027.5",
"protein_id": "ENSP00000444861.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546027.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000894156.1",
"protein_id": "ENSP00000564215.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894156.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000894157.1",
"protein_id": "ENSP00000564216.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894157.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "NM_001261831.2",
"protein_id": "NP_001248760.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 363,
"cds_start": 168,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261831.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000540675.5",
"protein_id": "ENSP00000444572.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 363,
"cds_start": 168,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540675.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000447428.5",
"protein_id": "ENSP00000402362.1",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 163,
"cds_start": 168,
"cds_end": null,
"cds_length": 494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447428.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000431370.1",
"protein_id": "ENSP00000393947.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 127,
"cds_start": 168,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431370.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "ENST00000425392.5",
"protein_id": "ENSP00000397301.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 126,
"cds_start": 168,
"cds_end": null,
"cds_length": 383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425392.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys",
"transcript": "XM_024451278.1",
"protein_id": "XP_024307046.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 380,
"cds_start": 168,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451278.1"
}
],
"gene_symbol": "SERPINB7",
"gene_hgnc_id": 13902,
"dbsnp": "rs770266684",
"frequency_reference_population": 0.000004121275,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000412128,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.20000000298023224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9800000190734863,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.078,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.49,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999966843061668,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003784.4",
"gene_symbol": "SERPINB7",
"hgnc_id": 13902,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.168G>A",
"hgvs_p": "p.Lys56Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}