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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: 12-11886025-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=11886025&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 11886025,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001987.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Arg418Gly",
"transcript": "NM_001987.5",
"protein_id": "NP_001978.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 452,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396373.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001987.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Arg418Gly",
"transcript": "ENST00000396373.9",
"protein_id": "ENSP00000379658.3",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 452,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001987.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396373.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1249A>G",
"hgvs_p": "p.Arg417Gly",
"transcript": "NM_001413913.1",
"protein_id": "NP_001400842.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 451,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413913.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1249A>G",
"hgvs_p": "p.Arg417Gly",
"transcript": "ENST00000904922.1",
"protein_id": "ENSP00000574981.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 451,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904922.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1225A>G",
"hgvs_p": "p.Arg409Gly",
"transcript": "NM_001413914.1",
"protein_id": "NP_001400843.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 443,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413914.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1117A>G",
"hgvs_p": "p.Arg373Gly",
"transcript": "ENST00000904923.1",
"protein_id": "ENSP00000574982.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 407,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904923.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1087A>G",
"hgvs_p": "p.Arg363Gly",
"transcript": "ENST00000937343.1",
"protein_id": "ENSP00000607402.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 397,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937343.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Arg362Gly",
"transcript": "ENST00000948724.1",
"protein_id": "ENSP00000618783.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 396,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948724.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.988A>G",
"hgvs_p": "p.Arg330Gly",
"transcript": "NM_001413915.1",
"protein_id": "NP_001400844.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 364,
"cds_start": 988,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413915.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Arg236Gly",
"transcript": "ENST00000937344.1",
"protein_id": "ENSP00000607403.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 270,
"cds_start": 706,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937344.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Arg30Gly",
"transcript": "ENST00000266427.3",
"protein_id": "ENSP00000266427.3",
"transcript_support_level": 3,
"aa_start": 30,
"aa_end": null,
"aa_length": 49,
"cds_start": 88,
"cds_end": null,
"cds_length": 150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266427.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1225A>G",
"hgvs_p": "p.Arg409Gly",
"transcript": "XM_047428502.1",
"protein_id": "XP_047284458.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 443,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428502.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1117A>G",
"hgvs_p": "p.Arg373Gly",
"transcript": "XM_017018990.2",
"protein_id": "XP_016874479.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 407,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018990.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.988A>G",
"hgvs_p": "p.Arg330Gly",
"transcript": "XM_017018991.2",
"protein_id": "XP_016874480.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 364,
"cds_start": 988,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018991.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.988A>G",
"hgvs_p": "p.Arg330Gly",
"transcript": "XM_047428503.1",
"protein_id": "XP_047284459.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 364,
"cds_start": 988,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428503.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.988A>G",
"hgvs_p": "p.Arg330Gly",
"transcript": "XM_047428504.1",
"protein_id": "XP_047284460.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 364,
"cds_start": 988,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428504.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Arg211Gly",
"transcript": "XM_011520612.3",
"protein_id": "XP_011518914.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 245,
"cds_start": 631,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520612.3"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.1010-4916A>G",
"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": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413917.1"
}
],
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"dbsnp": "rs786205226",
"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": 0.933318018913269,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.984000027179718,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.719,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9979,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.326,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.47,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999881896056663,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001987.5",
"gene_symbol": "ETV6",
"hgnc_id": 3495,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1252A>G",
"hgvs_p": "p.Arg418Gly"
}
],
"clinvar_disease": "Inborn genetic diseases,Thrombocytopenia 5",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Thrombocytopenia 5|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}