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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: 2-70964442-A-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=70964442&ref=A&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 70964442,
"ref": "A",
"alt": "AC",
"effect": "frameshift_variant",
"transcript": "NM_001692.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1155dupC",
"hgvs_p": "p.Ile386fs",
"transcript": "NM_001692.4",
"protein_id": "NP_001683.2",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 513,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234396.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001692.4"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1155dupC",
"hgvs_p": "p.Ile386fs",
"transcript": "ENST00000234396.10",
"protein_id": "ENSP00000234396.4",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 513,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001692.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234396.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258881",
"gene_hgnc_id": null,
"hgvs_c": "c.476-22010dupG",
"hgvs_p": null,
"transcript": "ENST00000606025.5",
"protein_id": "ENSP00000475641.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": null,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606025.5"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1155dupC",
"hgvs_p": "p.Ile386fs",
"transcript": "ENST00000872157.1",
"protein_id": "ENSP00000542216.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 525,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872157.1"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1176dupC",
"hgvs_p": "p.Ile393fs",
"transcript": "ENST00000872159.1",
"protein_id": "ENSP00000542218.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 520,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872159.1"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1173dupC",
"hgvs_p": "p.Ile392fs",
"transcript": "ENST00000872158.1",
"protein_id": "ENSP00000542217.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 519,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872158.1"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1143dupC",
"hgvs_p": "p.Ile382fs",
"transcript": "ENST00000872155.1",
"protein_id": "ENSP00000542214.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 509,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872155.1"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1155dupC",
"hgvs_p": "p.Ile386fs",
"transcript": "ENST00000872156.1",
"protein_id": "ENSP00000542215.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 505,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872156.1"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1104dupC",
"hgvs_p": "p.Ile369fs",
"transcript": "ENST00000412314.5",
"protein_id": "ENSP00000388353.1",
"transcript_support_level": 5,
"aa_start": 369,
"aa_end": null,
"aa_length": 496,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412314.5"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.87dupC",
"hgvs_p": "p.Ile30fs",
"transcript": "ENST00000433895.2",
"protein_id": "ENSP00000407840.2",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 156,
"cds_start": 88,
"cds_end": null,
"cds_length": 472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433895.2"
},
{
"aa_ref": "I",
"aa_alt": "H?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"hgvs_c": "c.1275dupC",
"hgvs_p": "p.Ile426fs",
"transcript": "XM_011532907.3",
"protein_id": "XP_011531209.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 553,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532907.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAX2",
"gene_hgnc_id": 12661,
"hgvs_c": "n.*931dupC",
"hgvs_p": null,
"transcript": "ENST00000432367.6",
"protein_id": "ENSP00000405114.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432367.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAX2",
"gene_hgnc_id": 12661,
"hgvs_c": "n.*1043dupC",
"hgvs_p": null,
"transcript": "ENST00000646783.1",
"protein_id": "ENSP00000495231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAX2",
"gene_hgnc_id": 12661,
"hgvs_c": "n.*931dupC",
"hgvs_p": null,
"transcript": "ENST00000432367.6",
"protein_id": "ENSP00000405114.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000432367.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VAX2",
"gene_hgnc_id": 12661,
"hgvs_c": "n.*1043dupC",
"hgvs_p": null,
"transcript": "ENST00000646783.1",
"protein_id": "ENSP00000495231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258881",
"gene_hgnc_id": null,
"hgvs_c": "n.142-16068dupG",
"hgvs_p": null,
"transcript": "ENST00000453130.1",
"protein_id": "ENSP00000475757.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000453130.1"
}
],
"gene_symbol": "ATP6V1B1",
"gene_hgnc_id": 853,
"dbsnp": "rs781969081",
"frequency_reference_population": 0.000027279717,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000253111,
"gnomad_genomes_af": 0.0000463233,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"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": 0.032,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001692.4",
"gene_symbol": "ATP6V1B1",
"hgnc_id": 853,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1155dupC",
"hgvs_p": "p.Ile386fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000606025.5",
"gene_symbol": "ENSG00000258881",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.476-22010dupG",
"hgvs_p": null
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646783.1",
"gene_symbol": "VAX2",
"hgnc_id": 12661,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1043dupC",
"hgvs_p": null
}
],
"clinvar_disease": "ATP6V1B1-related disorder,Inborn genetic diseases,Renal tubular acidosis with progressive nerve deafness,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 US:1",
"phenotype_combined": "Inborn genetic diseases|not provided|Renal tubular acidosis with progressive nerve deafness|ATP6V1B1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}