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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: 12-11869562-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=11869562&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 11869562,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001987.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.602T>C",
"hgvs_p": "p.Leu201Pro",
"transcript": "NM_001987.5",
"protein_id": "NP_001978.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 452,
"cds_start": 602,
"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": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.602T>C",
"hgvs_p": "p.Leu201Pro",
"transcript": "ENST00000396373.9",
"protein_id": "ENSP00000379658.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 452,
"cds_start": 602,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"transcript": "NM_001413913.1",
"protein_id": "NP_001400842.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 451,
"cds_start": 599,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"transcript": "ENST00000904922.1",
"protein_id": "ENSP00000574981.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 451,
"cds_start": 599,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Leu192Pro",
"transcript": "NM_001413914.1",
"protein_id": "NP_001400843.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 443,
"cds_start": 575,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Leu156Pro",
"transcript": "ENST00000904923.1",
"protein_id": "ENSP00000574982.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 407,
"cds_start": 467,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.437T>C",
"hgvs_p": "p.Leu146Pro",
"transcript": "ENST00000937343.1",
"protein_id": "ENSP00000607402.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 397,
"cds_start": 437,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Leu145Pro",
"transcript": "ENST00000948724.1",
"protein_id": "ENSP00000618783.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 396,
"cds_start": 434,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Leu113Pro",
"transcript": "NM_001413915.1",
"protein_id": "NP_001400844.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 364,
"cds_start": 338,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.602T>C",
"hgvs_p": "p.Leu201Pro",
"transcript": "NM_001413916.1",
"protein_id": "NP_001400845.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 338,
"cds_start": 602,
"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_001413916.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.602T>C",
"hgvs_p": "p.Leu201Pro",
"transcript": "NM_001413917.1",
"protein_id": "NP_001400846.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 338,
"cds_start": 602,
"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"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Leu192Pro",
"transcript": "XM_047428502.1",
"protein_id": "XP_047284458.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 443,
"cds_start": 575,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Leu156Pro",
"transcript": "XM_017018990.2",
"protein_id": "XP_016874479.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 407,
"cds_start": 467,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Leu113Pro",
"transcript": "XM_017018991.2",
"protein_id": "XP_016874480.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 364,
"cds_start": 338,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Leu113Pro",
"transcript": "XM_047428503.1",
"protein_id": "XP_047284459.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 364,
"cds_start": 338,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Leu113Pro",
"transcript": "XM_047428504.1",
"protein_id": "XP_047284460.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 364,
"cds_start": 338,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.-20T>C",
"hgvs_p": null,
"transcript": "XM_011520612.3",
"protein_id": "XP_011518914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.464-14883T>C",
"hgvs_p": null,
"transcript": "ENST00000937344.1",
"protein_id": "ENSP00000607403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"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"
}
],
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"dbsnp": "rs145477191",
"frequency_reference_population": 0.0070808,
"hom_count_reference_population": 50,
"allele_count_reference_population": 11428,
"gnomad_exomes_af": 0.00730846,
"gnomad_genomes_af": 0.00489236,
"gnomad_exomes_ac": 10684,
"gnomad_genomes_ac": 744,
"gnomad_exomes_homalt": 49,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007807523012161255,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0956,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.142,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001987.5",
"gene_symbol": "ETV6",
"hgnc_id": 3495,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.602T>C",
"hgvs_p": "p.Leu201Pro"
}
],
"clinvar_disease": "ETV6-related disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases|ETV6-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}