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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: 6-151723749-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=151723749&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 151723749,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001122742.2",
"consequences": [
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "ENST00000404742.5",
"protein_id": "ENSP00000385373.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 624,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "n.204+21744A>G",
"hgvs_p": null,
"transcript": "ENST00000473497.5",
"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": 219,
"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": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "NM_001122742.2",
"protein_id": "NP_001116214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6435,
"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": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "NM_001385568.1",
"protein_id": "NP_001372497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6389,
"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": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "ENST00000440973.5",
"protein_id": "ENSP00000405330.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6466,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "NM_001385570.1",
"protein_id": "NP_001372499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6251,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-185+21744A>G",
"hgvs_p": null,
"transcript": "XM_011535543.3",
"protein_id": "XP_011533845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6549,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "XM_017010377.2",
"protein_id": "XP_016865866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6448,
"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": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "XM_017010378.2",
"protein_id": "XP_016865867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6439,
"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": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "XM_017010379.2",
"protein_id": "XP_016865868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11482,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+66986A>G",
"hgvs_p": null,
"transcript": "XM_017010380.2",
"protein_id": "XP_016865869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6258,
"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": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "XM_047418290.1",
"protein_id": "XP_047274246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16074,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "XM_011535547.3",
"protein_id": "XP_011533849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8147,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "XM_047418295.1",
"protein_id": "XP_047274251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6255,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null,
"transcript": "XM_047418297.1",
"protein_id": "XP_047274253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ESR1",
"gene_hgnc_id": 3467,
"dbsnp": "rs7749659",
"frequency_reference_population": 0.28437105,
"hom_count_reference_population": 6565,
"allele_count_reference_population": 43097,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.284371,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 43097,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 6565,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.539,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001122742.2",
"gene_symbol": "ESR1",
"hgnc_id": 3467,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-71+21744A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}