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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: 19-38915660-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38915660&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38915660,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001145901.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1503C>A",
"hgvs_p": "p.Ile501Ile",
"transcript": "NM_017827.4",
"protein_id": "NP_060297.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 518,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221431.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017827.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1503C>A",
"hgvs_p": "p.Ile501Ile",
"transcript": "ENST00000221431.11",
"protein_id": "ENSP00000221431.6",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 518,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017827.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221431.11"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269547",
"gene_hgnc_id": null,
"hgvs_c": "c.1710C>A",
"hgvs_p": "p.Ile570Ile",
"transcript": "ENST00000599996.1",
"protein_id": "ENSP00000472465.1",
"transcript_support_level": 2,
"aa_start": 570,
"aa_end": null,
"aa_length": 587,
"cds_start": 1710,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599996.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1503C>A",
"hgvs_p": "p.Ile501Ile",
"transcript": "ENST00000598831.6",
"protein_id": "ENSP00000468865.2",
"transcript_support_level": 5,
"aa_start": 501,
"aa_end": null,
"aa_length": 539,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598831.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1524C>A",
"hgvs_p": "p.Ile508Ile",
"transcript": "ENST00000897494.1",
"protein_id": "ENSP00000567553.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 525,
"cds_start": 1524,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897494.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Ile503Ile",
"transcript": "NM_001145901.2",
"protein_id": "NP_001139373.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 520,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145901.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Ile503Ile",
"transcript": "ENST00000600042.5",
"protein_id": "ENSP00000472847.1",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 520,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600042.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1503C>A",
"hgvs_p": "p.Ile501Ile",
"transcript": "ENST00000430193.7",
"protein_id": "ENSP00000406754.3",
"transcript_support_level": 5,
"aa_start": 501,
"aa_end": null,
"aa_length": 518,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430193.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1485C>A",
"hgvs_p": "p.Ile495Ile",
"transcript": "ENST00000915666.1",
"protein_id": "ENSP00000585725.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 512,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915666.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1455C>A",
"hgvs_p": "p.Ile485Ile",
"transcript": "ENST00000897495.1",
"protein_id": "ENSP00000567554.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 502,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897495.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1356C>A",
"hgvs_p": "p.Ile452Ile",
"transcript": "ENST00000961253.1",
"protein_id": "ENSP00000631312.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 469,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961253.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.1305C>A",
"hgvs_p": "p.Ile435Ile",
"transcript": "ENST00000961254.1",
"protein_id": "ENSP00000631313.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 452,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961254.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.996C>A",
"hgvs_p": "p.Ile332Ile",
"transcript": "ENST00000961255.1",
"protein_id": "ENSP00000631314.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 349,
"cds_start": 996,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961255.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "c.933C>A",
"hgvs_p": "p.Ile311Ile",
"transcript": "ENST00000594171.5",
"protein_id": "ENSP00000472339.1",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 328,
"cds_start": 933,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594171.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"hgvs_c": "n.296C>A",
"hgvs_p": null,
"transcript": "ENST00000594259.1",
"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": "ENST00000594259.1"
}
],
"gene_symbol": "SARS2",
"gene_hgnc_id": 17697,
"dbsnp": "rs562766344",
"frequency_reference_population": 0.0000065703885,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.644,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145901.2",
"gene_symbol": "SARS2",
"hgnc_id": 17697,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1509C>A",
"hgvs_p": "p.Ile503Ile"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000599996.1",
"gene_symbol": "ENSG00000269547",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1710C>A",
"hgvs_p": "p.Ile570Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}