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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: 8-143791210-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143791210&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143791210,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182706.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"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.4921C>T",
"hgvs_p": "p.Arg1641Cys",
"transcript": "NM_182706.5",
"protein_id": "NP_874365.3",
"transcript_support_level": null,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4921,
"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": "C",
"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.4921C>T",
"hgvs_p": "p.Arg1641Cys",
"transcript": "ENST00000356994.7",
"protein_id": "ENSP00000349486.2",
"transcript_support_level": 2,
"aa_start": 1641,
"aa_end": null,
"aa_length": 1655,
"cds_start": 4921,
"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": "C",
"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.4846C>T",
"hgvs_p": "p.Arg1616Cys",
"transcript": "ENST00000320476.7",
"protein_id": "ENSP00000322938.3",
"transcript_support_level": 1,
"aa_start": 1616,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4846,
"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": "C",
"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.4603C>T",
"hgvs_p": "p.Arg1535Cys",
"transcript": "ENST00000377533.7",
"protein_id": "ENSP00000366756.3",
"transcript_support_level": 1,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1549,
"cds_start": 4603,
"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": "C",
"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.1903C>T",
"hgvs_p": "p.Arg635Cys",
"transcript": "ENST00000526832.5",
"protein_id": "ENSP00000431519.1",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 649,
"cds_start": 1903,
"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.1400C>T",
"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": "C",
"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.4930C>T",
"hgvs_p": "p.Arg1644Cys",
"transcript": "ENST00000674084.1",
"protein_id": "ENSP00000501177.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1658,
"cds_start": 4930,
"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": "C",
"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.4846C>T",
"hgvs_p": "p.Arg1616Cys",
"transcript": "NM_015356.5",
"protein_id": "NP_056171.3",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 1630,
"cds_start": 4846,
"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": "C",
"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.4663C>T",
"hgvs_p": "p.Arg1555Cys",
"transcript": "ENST00000956152.1",
"protein_id": "ENSP00000626211.1",
"transcript_support_level": null,
"aa_start": 1555,
"aa_end": null,
"aa_length": 1569,
"cds_start": 4663,
"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": "C",
"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.4657C>T",
"hgvs_p": "p.Arg1553Cys",
"transcript": "ENST00000921483.1",
"protein_id": "ENSP00000591542.1",
"transcript_support_level": null,
"aa_start": 1553,
"aa_end": null,
"aa_length": 1567,
"cds_start": 4657,
"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": "C",
"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.4588C>T",
"hgvs_p": "p.Arg1530Cys",
"transcript": "ENST00000956153.1",
"protein_id": "ENSP00000626212.1",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1544,
"cds_start": 4588,
"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": "C",
"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.4567C>T",
"hgvs_p": "p.Arg1523Cys",
"transcript": "ENST00000956151.1",
"protein_id": "ENSP00000626210.1",
"transcript_support_level": null,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4567,
"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.253C>T",
"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": "rs782337232",
"frequency_reference_population": 0.000059353733,
"hom_count_reference_population": 0,
"allele_count_reference_population": 86,
"gnomad_exomes_af": 0.0000609269,
"gnomad_genomes_af": 0.0000459607,
"gnomad_exomes_ac": 79,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16897109150886536,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.4936,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.474,
"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.4921C>T",
"hgvs_p": "p.Arg1641Cys"
}
],
"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
}