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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: 18-22171919-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=22171919&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 22171919,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005257.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "NM_005257.6",
"protein_id": "NP_005248.2",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269216.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005257.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000269216.10",
"protein_id": "ENSP00000269216.3",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005257.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269216.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000581694.1",
"protein_id": "ENSP00000462313.1",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581694.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000853536.1",
"protein_id": "ENSP00000523595.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 631,
"cds_start": 775,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853536.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000853535.1",
"protein_id": "ENSP00000523594.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853535.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000853537.1",
"protein_id": "ENSP00000523596.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853537.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000944915.1",
"protein_id": "ENSP00000614974.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944915.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000944916.1",
"protein_id": "ENSP00000614975.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944916.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000944917.1",
"protein_id": "ENSP00000614976.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944917.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000944918.1",
"protein_id": "ENSP00000614977.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944918.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "XM_047437483.1",
"protein_id": "XP_047293439.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 595,
"cds_start": 775,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437483.1"
}
],
"gene_symbol": "GATA6",
"gene_hgnc_id": 4174,
"dbsnp": "rs911752926",
"frequency_reference_population": 0.0000019484517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000194845,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3468470573425293,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.267,
"revel_prediction": "Benign",
"alphamissense_score": 0.1036,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.617,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005257.6",
"gene_symbol": "GATA6",
"hgnc_id": 4174,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}