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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: 18-22172140-CCAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=22172140&ref=CCAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 22172140,
"ref": "CCAT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_005257.6",
"consequences": [
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "NM_005257.6",
"protein_id": "NP_005248.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "ENST00000269216.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005257.6"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000269216.10",
"protein_id": "ENSP00000269216.3",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": "NM_005257.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269216.10"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000581694.1",
"protein_id": "ENSP00000462313.1",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581694.1"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000853536.1",
"protein_id": "ENSP00000523595.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 631,
"cds_start": 998,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853536.1"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000853535.1",
"protein_id": "ENSP00000523594.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853535.1"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000853537.1",
"protein_id": "ENSP00000523596.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853537.1"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000944915.1",
"protein_id": "ENSP00000614974.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944915.1"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000944916.1",
"protein_id": "ENSP00000614975.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944916.1"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000944917.1",
"protein_id": "ENSP00000614976.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944917.1"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "ENST00000944918.1",
"protein_id": "ENSP00000614977.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944918.1"
},
{
"aa_ref": "HP",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del",
"transcript": "XM_047437483.1",
"protein_id": "XP_047293439.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 595,
"cds_start": 998,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437483.1"
}
],
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"dbsnp": "rs763204851",
"frequency_reference_population": 0.00005384478,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000546964,
"gnomad_genomes_af": 0.0000461467,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.046,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_005257.6",
"gene_symbol": "GATA6",
"hgnc_id": 4174,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.998_1000delATC",
"hgvs_p": "p.His333del"
}
],
"clinvar_disease": "Atrioventricular septal defect 5,Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Atrioventricular septal defect 5|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}