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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: 1-42830984-TGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42830984&ref=TGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42830984,
"ref": "TGA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000372517.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.307_308delGA",
"hgvs_p": "p.Asp103fs",
"transcript": "NM_001017922.2",
"protein_id": "NP_001017922.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 475,
"cds_start": 307,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": "ENST00000372517.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.307_308delGA",
"hgvs_p": "p.Asp103fs",
"transcript": "ENST00000372517.8",
"protein_id": "ENSP00000361595.2",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 475,
"cds_start": 307,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": "NM_001017922.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.307_308delGA",
"hgvs_p": "p.Asp103fs",
"transcript": "ENST00000372514.7",
"protein_id": "ENSP00000361592.3",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 475,
"cds_start": 307,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "n.1075_1076delGA",
"hgvs_p": null,
"transcript": "ENST00000328249.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.307_308delGA",
"hgvs_p": "p.Asp103fs",
"transcript": "NM_018538.4",
"protein_id": "NP_061008.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 475,
"cds_start": 307,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.505_506delGA",
"hgvs_p": "p.Asp169fs",
"transcript": "XM_047443586.1",
"protein_id": "XP_047299542.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 541,
"cds_start": 505,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 5014,
"cdna_end": null,
"cdna_length": 7894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.505_506delGA",
"hgvs_p": "p.Asp169fs",
"transcript": "XM_047443588.1",
"protein_id": "XP_047299544.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 534,
"cds_start": 505,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 5014,
"cdna_end": null,
"cdna_length": 7873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.307_308delGA",
"hgvs_p": "p.Asp103fs",
"transcript": "XM_006710313.5",
"protein_id": "XP_006710376.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 475,
"cds_start": 307,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.307_308delGA",
"hgvs_p": "p.Asp103fs",
"transcript": "XM_011540570.4",
"protein_id": "XP_011538872.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 475,
"cds_start": 307,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.307_308delGA",
"hgvs_p": "p.Asp103fs",
"transcript": "XM_047443591.1",
"protein_id": "XP_047299547.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 475,
"cds_start": 307,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.505_506delGA",
"hgvs_p": "p.Asp169fs",
"transcript": "XM_047443600.1",
"protein_id": "XP_047299556.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 283,
"cds_start": 505,
"cds_end": null,
"cds_length": 852,
"cdna_start": 5014,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "n.494_495delGA",
"hgvs_p": null,
"transcript": "ENST00000642150.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "n.452-4049_452-4048delGA",
"hgvs_p": null,
"transcript": "ENST00000487556.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "n.248-4049_248-4048delGA",
"hgvs_p": null,
"transcript": "ENST00000647120.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "c.-74-4049_-74-4048delGA",
"hgvs_p": null,
"transcript": "XM_047443595.1",
"protein_id": "XP_047299551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"hgvs_c": "n.*211_*212delGA",
"hgvs_p": null,
"transcript": "ENST00000643061.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERMAP",
"gene_hgnc_id": 15743,
"dbsnp": "rs387906265",
"frequency_reference_population": 0.000006573239,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657324,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.251,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372517.8",
"gene_symbol": "ERMAP",
"hgnc_id": 15743,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.307_308delGA",
"hgvs_p": "p.Asp103fs"
}
],
"clinvar_disease": " SC:-1,-2,SCIANNA BLOOD GROUP SYSTEM",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}