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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: 9-98128671-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=98128671&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 98128671,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003389.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "NM_052820.4",
"protein_id": "NP_438171.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375077.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052820.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000375077.5",
"protein_id": "ENSP00000364218.4",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052820.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375077.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000343933.9",
"protein_id": "ENSP00000343746.5",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"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": "ENST00000343933.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Arg409His",
"transcript": "ENST00000948662.1",
"protein_id": "ENSP00000618721.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 595,
"cds_start": 1226,
"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": "ENST00000948662.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "NM_003389.3",
"protein_id": "NP_003380.3",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"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": "NM_003389.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000871381.1",
"protein_id": "ENSP00000541440.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"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": "ENST00000871381.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000871382.1",
"protein_id": "ENSP00000541441.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"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": "ENST00000871382.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000871384.1",
"protein_id": "ENSP00000541443.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"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": "ENST00000871384.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000930885.1",
"protein_id": "ENSP00000600944.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"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": "ENST00000930885.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Arg338His",
"transcript": "ENST00000948660.1",
"protein_id": "ENSP00000618719.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 524,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948660.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1007G>A",
"hgvs_p": "p.Arg336His",
"transcript": "ENST00000871383.1",
"protein_id": "ENSP00000541442.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 522,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871383.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000930886.1",
"protein_id": "ENSP00000600945.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 522,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930886.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000871386.1",
"protein_id": "ENSP00000541445.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 521,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871386.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333His",
"transcript": "ENST00000948661.1",
"protein_id": "ENSP00000618720.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 519,
"cds_start": 998,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948661.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304His",
"transcript": "ENST00000871387.1",
"protein_id": "ENSP00000541446.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 490,
"cds_start": 911,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871387.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "ENST00000930884.1",
"protein_id": "ENSP00000600943.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 391,
"cds_start": 614,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930884.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "XM_011518986.4",
"protein_id": "XP_011517288.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 525,
"cds_start": 1016,
"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": "XM_011518986.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"hgvs_c": "c.967+1123G>A",
"hgvs_p": null,
"transcript": "ENST00000871385.1",
"protein_id": "ENSP00000541444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871385.1"
}
],
"gene_symbol": "CORO2A",
"gene_hgnc_id": 2255,
"dbsnp": "rs747978763",
"frequency_reference_population": 0.000008673962,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000752451,
"gnomad_genomes_af": 0.0000197192,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9701300263404846,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.624,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6047,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.507,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003389.3",
"gene_symbol": "CORO2A",
"hgnc_id": 2255,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}