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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: 12-11890994-A-AGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=11890994&ref=A&alt=AGGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 11890994,
"ref": "A",
"alt": "AGGG",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000396373.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1307_1308insGGG",
"hgvs_p": "p.His436delinsGlnGly",
"transcript": "NM_001987.5",
"protein_id": "NP_001978.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 452,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": "ENST00000396373.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1307_1308insGGG",
"hgvs_p": "p.His436delinsGlnGly",
"transcript": "ENST00000396373.9",
"protein_id": "ENSP00000379658.3",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 452,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": "NM_001987.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1304_1305insGGG",
"hgvs_p": "p.His435delinsGlnGly",
"transcript": "NM_001413913.1",
"protein_id": "NP_001400842.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 451,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 6141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1280_1281insGGG",
"hgvs_p": "p.His427delinsGlnGly",
"transcript": "NM_001413914.1",
"protein_id": "NP_001400843.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 443,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 6269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1043_1044insGGG",
"hgvs_p": "p.His348delinsGlnGly",
"transcript": "NM_001413915.1",
"protein_id": "NP_001400844.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 364,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 6014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1280_1281insGGG",
"hgvs_p": "p.His427delinsGlnGly",
"transcript": "XM_047428502.1",
"protein_id": "XP_047284458.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 443,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 13342,
"cdna_end": null,
"cdna_length": 17724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1172_1173insGGG",
"hgvs_p": "p.His391delinsGlnGly",
"transcript": "XM_017018990.2",
"protein_id": "XP_016874479.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 407,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1043_1044insGGG",
"hgvs_p": "p.His348delinsGlnGly",
"transcript": "XM_017018991.2",
"protein_id": "XP_016874480.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 364,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 2666,
"cdna_end": null,
"cdna_length": 7048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1043_1044insGGG",
"hgvs_p": "p.His348delinsGlnGly",
"transcript": "XM_047428503.1",
"protein_id": "XP_047284459.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 364,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 6978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1043_1044insGGG",
"hgvs_p": "p.His348delinsGlnGly",
"transcript": "XM_047428504.1",
"protein_id": "XP_047284460.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 364,
"cds_start": 1044,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "QG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.686_687insGGG",
"hgvs_p": "p.His229delinsGlnGly",
"transcript": "XM_011520612.3",
"protein_id": "XP_011518914.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 245,
"cds_start": 687,
"cds_end": null,
"cds_length": 738,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.*46_*47insGGG",
"hgvs_p": null,
"transcript": "NM_001413917.1",
"protein_id": "NP_001400846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": -4,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5900,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.90-547_90-546insGGG",
"hgvs_p": null,
"transcript": "ENST00000266427.3",
"protein_id": "ENSP00000266427.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 49,
"cds_start": -4,
"cds_end": null,
"cds_length": 150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"dbsnp": "rs587776710",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.38,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000396373.9",
"gene_symbol": "ETV6",
"hgnc_id": 3495,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1307_1308insGGG",
"hgvs_p": "p.His436delinsGlnGly"
}
],
"clinvar_disease": "Acute myeloid leukemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Acute myeloid leukemia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}