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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: 4-57017210-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=57017210&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 57017210,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000938.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Ala708Val",
"transcript": "NM_000938.3",
"protein_id": "NP_000929.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2123,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314595.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000938.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Ala708Val",
"transcript": "ENST00000314595.6",
"protein_id": "ENSP00000312735.5",
"transcript_support_level": 1,
"aa_start": 708,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2123,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000938.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314595.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Ala708Val",
"transcript": "ENST00000381227.5",
"protein_id": "ENSP00000370625.1",
"transcript_support_level": 5,
"aa_start": 708,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2123,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381227.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2102C>T",
"hgvs_p": "p.Ala701Val",
"transcript": "NM_001303269.2",
"protein_id": "NP_001290198.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2102,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303269.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.2102C>T",
"hgvs_p": "p.Ala701Val",
"transcript": "ENST00000441246.6",
"protein_id": "ENSP00000391452.2",
"transcript_support_level": 2,
"aa_start": 701,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2102,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441246.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1898C>T",
"hgvs_p": "p.Ala633Val",
"transcript": "NM_001303268.2",
"protein_id": "NP_001290197.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303268.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "c.1802C>T",
"hgvs_p": "p.Ala601Val",
"transcript": "ENST00000431623.6",
"protein_id": "ENSP00000391096.3",
"transcript_support_level": 2,
"aa_start": 601,
"aa_end": null,
"aa_length": 1067,
"cds_start": 1802,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431623.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"hgvs_c": "n.1521C>T",
"hgvs_p": null,
"transcript": "ENST00000478188.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000478188.5"
}
],
"gene_symbol": "POLR2B",
"gene_hgnc_id": 9188,
"dbsnp": "rs1723396043",
"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": 0.9710094928741455,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.922,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9601,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000938.3",
"gene_symbol": "POLR2B",
"hgnc_id": 9188,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Ala708Val"
}
],
"clinvar_disease": "Esophageal atresia/tracheoesophageal fistula",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Esophageal atresia/tracheoesophageal fistula",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}