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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: 22-42213082-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42213082&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42213082,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000677622.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "NM_001378418.1",
"protein_id": "NP_001365347.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1960,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 7624,
"mane_select": "ENST00000677622.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "ENST00000677622.1",
"protein_id": "ENSP00000503828.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1960,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 7624,
"mane_select": "NM_001378418.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "ENST00000359486.8",
"protein_id": "ENSP00000352463.3",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1960,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 7480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "ENST00000335626.8",
"protein_id": "ENSP00000335561.4",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 1938,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "NM_005650.4",
"protein_id": "NP_005641.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1960,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 7410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "ENST00000683686.1",
"protein_id": "ENSP00000508272.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1960,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 3564,
"cdna_end": null,
"cdna_length": 8573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "NM_181492.3",
"protein_id": "NP_852469.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1938,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 7496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "ENST00000675876.1",
"protein_id": "ENSP00000502259.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1263,
"cds_start": 2224,
"cds_end": null,
"cds_length": 3793,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "XM_005261722.4",
"protein_id": "XP_005261779.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1960,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4375,
"cdna_end": null,
"cdna_length": 9424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "XM_047441474.1",
"protein_id": "XP_047297430.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1960,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 7368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "XM_047441475.1",
"protein_id": "XP_047297431.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1960,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "XM_011530353.3",
"protein_id": "XP_011528655.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1949,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5850,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 7591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "XM_047441476.1",
"protein_id": "XP_047297432.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1938,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 7240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "XM_047441477.1",
"protein_id": "XP_047297433.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1938,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 3581,
"cdna_end": null,
"cdna_length": 8502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*",
"transcript": "XM_047441478.1",
"protein_id": "XP_047297434.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1938,
"cds_start": 2224,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 7580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TCF20",
"gene_hgnc_id": 11631,
"dbsnp": "rs1555926209",
"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": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"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": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.95,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000677622.1",
"gene_symbol": "TCF20",
"hgnc_id": 11631,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2224C>T",
"hgvs_p": "p.Arg742*"
}
],
"clinvar_disease": "Developmental delay with variable intellectual impairment and behavioral abnormalities,Inborn genetic diseases,Neurodevelopmental abnormality,Neurodevelopmental delay,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Inborn genetic diseases|Developmental delay with variable intellectual impairment and behavioral abnormalities|Neurodevelopmental abnormality|not provided|Neurodevelopmental delay",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}