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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: 7-66087766-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66087766&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 66087766,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000304874.14",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Asp231Asp",
"transcript": "NM_000048.4",
"protein_id": "NP_000039.2",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 464,
"cds_start": 693,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": "ENST00000304874.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Asp231Asp",
"transcript": "ENST00000304874.14",
"protein_id": "ENSP00000307188.9",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 464,
"cds_start": 693,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": "NM_000048.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Asp231Asp",
"transcript": "ENST00000395332.8",
"protein_id": "ENSP00000378741.3",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 464,
"cds_start": 693,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249319",
"gene_hgnc_id": null,
"hgvs_c": "c.6T>C",
"hgvs_p": "p.Asp2Asp",
"transcript": "ENST00000450043.2",
"protein_id": "ENSP00000396527.2",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 306,
"cds_start": 6,
"cds_end": null,
"cds_length": 922,
"cdna_start": 6,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Asp231Asp",
"transcript": "NM_001024943.2",
"protein_id": "NP_001020114.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 464,
"cds_start": 693,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Asp231Asp",
"transcript": "NM_001024944.2",
"protein_id": "NP_001020115.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 444,
"cds_start": 693,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Asp231Asp",
"transcript": "ENST00000395331.4",
"protein_id": "ENSP00000378740.3",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 444,
"cds_start": 693,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Asp205Asp",
"transcript": "NM_001024946.2",
"protein_id": "NP_001020117.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 438,
"cds_start": 615,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Asp205Asp",
"transcript": "ENST00000380839.9",
"protein_id": "ENSP00000370219.4",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 438,
"cds_start": 615,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Asp205Asp",
"transcript": "ENST00000673518.1",
"protein_id": "ENSP00000499889.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 438,
"cds_start": 615,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.498T>C",
"hgvs_p": "p.Asp166Asp",
"transcript": "ENST00000362000.10",
"protein_id": "ENSP00000354710.6",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 399,
"cds_start": 498,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "c.615T>C",
"hgvs_p": "p.Asp205Asp",
"transcript": "ENST00000671817.1",
"protein_id": "ENSP00000500462.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 346,
"cds_start": 615,
"cds_end": null,
"cds_length": 1042,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.74T>C",
"hgvs_p": null,
"transcript": "ENST00000493708.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.484T>C",
"hgvs_p": null,
"transcript": "ENST00000672498.1",
"protein_id": "ENSP00000500227.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.1452T>C",
"hgvs_p": null,
"transcript": "ENST00000672586.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.1717T>C",
"hgvs_p": null,
"transcript": "ENST00000672676.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.505T>C",
"hgvs_p": null,
"transcript": "ENST00000673149.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.1795T>C",
"hgvs_p": null,
"transcript": "ENST00000673350.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"hgvs_c": "n.*129T>C",
"hgvs_p": null,
"transcript": "ENST00000673594.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASL",
"gene_hgnc_id": 746,
"dbsnp": "rs1312699116",
"frequency_reference_population": 0.0000041043604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410436,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1083,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.337,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000304874.14",
"gene_symbol": "ASL",
"hgnc_id": 746,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.693T>C",
"hgvs_p": "p.Asp231Asp"
},
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000450043.2",
"gene_symbol": "ENSG00000249319",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.6T>C",
"hgvs_p": "p.Asp2Asp"
}
],
"clinvar_disease": "Argininosuccinate lyase deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Argininosuccinate lyase deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}