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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: 8-143791212-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143791212&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143791212,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182706.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640His",
"transcript": "NM_182706.5",
"protein_id": "NP_874365.3",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4919,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356994.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182706.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640His",
"transcript": "ENST00000356994.7",
"protein_id": "ENSP00000349486.2",
"transcript_support_level": 2,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4919,
"cds_end": null,
"cds_length": 4968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182706.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356994.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4844G>A",
"hgvs_p": "p.Arg1615His",
"transcript": "ENST00000320476.7",
"protein_id": "ENSP00000322938.3",
"transcript_support_level": 1,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4844,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320476.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4601G>A",
"hgvs_p": "p.Arg1534His",
"transcript": "ENST00000377533.7",
"protein_id": "ENSP00000366756.3",
"transcript_support_level": 1,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4601,
"cds_end": null,
"cds_length": 4650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377533.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634His",
"transcript": "ENST00000526832.5",
"protein_id": "ENSP00000431519.1",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 649,
"cds_start": 1901,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526832.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "n.1398G>A",
"hgvs_p": null,
"transcript": "ENST00000525051.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000525051.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4928G>A",
"hgvs_p": "p.Arg1643His",
"transcript": "ENST00000674084.1",
"protein_id": "ENSP00000501177.1",
"transcript_support_level": null,
"aa_start": 1643,
"aa_end": null,
"aa_length": 1658,
"cds_start": 4928,
"cds_end": null,
"cds_length": 4977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674084.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4844G>A",
"hgvs_p": "p.Arg1615His",
"transcript": "NM_015356.5",
"protein_id": "NP_056171.3",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4844,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015356.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4661G>A",
"hgvs_p": "p.Arg1554His",
"transcript": "ENST00000956152.1",
"protein_id": "ENSP00000626211.1",
"transcript_support_level": null,
"aa_start": 1554,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4661,
"cds_end": null,
"cds_length": 4710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956152.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4655G>A",
"hgvs_p": "p.Arg1552His",
"transcript": "ENST00000921483.1",
"protein_id": "ENSP00000591542.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1567,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921483.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4586G>A",
"hgvs_p": "p.Arg1529His",
"transcript": "ENST00000956153.1",
"protein_id": "ENSP00000626212.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 1544,
"cds_start": 4586,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956153.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "c.4565G>A",
"hgvs_p": "p.Arg1522His",
"transcript": "ENST00000956151.1",
"protein_id": "ENSP00000626210.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4565,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956151.1"
},
{
"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": "SCRIB",
"gene_hgnc_id": 30377,
"hgvs_c": "n.251G>A",
"hgvs_p": null,
"transcript": "ENST00000531163.5",
"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": "ENST00000531163.5"
}
],
"gene_symbol": "SCRIB",
"gene_hgnc_id": 30377,
"dbsnp": "rs782340486",
"frequency_reference_population": 0.00002552784,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000254382,
"gnomad_genomes_af": 0.0000262919,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19961506128311157,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.2378,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.894,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_182706.5",
"gene_symbol": "SCRIB",
"hgnc_id": 30377,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4919G>A",
"hgvs_p": "p.Arg1640His"
}
],
"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
}