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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: 22-20425464-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20425464&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20425464,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_153334.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "NM_182895.5",
"protein_id": "NP_878315.2",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 866,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000622235.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182895.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2512C>T",
"hgvs_p": "p.Arg838Trp",
"transcript": "ENST00000622235.5",
"protein_id": "ENSP00000477564.2",
"transcript_support_level": 1,
"aa_start": 838,
"aa_end": null,
"aa_length": 866,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182895.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622235.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2527C>T",
"hgvs_p": "p.Arg843Trp",
"transcript": "ENST00000623402.1",
"protein_id": "ENSP00000485276.1",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 871,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623402.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2641C>T",
"hgvs_p": "p.Arg881Trp",
"transcript": "ENST00000925309.1",
"protein_id": "ENSP00000595368.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 909,
"cds_start": 2641,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925309.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2626C>T",
"hgvs_p": "p.Arg876Trp",
"transcript": "ENST00000925313.1",
"protein_id": "ENSP00000595372.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 904,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925313.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2527C>T",
"hgvs_p": "p.Arg843Trp",
"transcript": "NM_153334.7",
"protein_id": "NP_699165.3",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 871,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153334.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2359C>T",
"hgvs_p": "p.Arg787Trp",
"transcript": "ENST00000925315.1",
"protein_id": "ENSP00000595374.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 815,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925315.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2233C>T",
"hgvs_p": "p.Arg745Trp",
"transcript": "ENST00000925310.1",
"protein_id": "ENSP00000595369.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 773,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925310.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.1933C>T",
"hgvs_p": "p.Arg645Trp",
"transcript": "ENST00000967705.1",
"protein_id": "ENSP00000637764.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 673,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967705.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.1846C>T",
"hgvs_p": "p.Arg616Trp",
"transcript": "ENST00000925314.1",
"protein_id": "ENSP00000595373.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 644,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925314.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Trp",
"transcript": "ENST00000967704.1",
"protein_id": "ENSP00000637763.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 639,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967704.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Trp",
"transcript": "ENST00000925312.1",
"protein_id": "ENSP00000595371.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 571,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925312.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.1612C>T",
"hgvs_p": "p.Arg538Trp",
"transcript": "ENST00000925311.1",
"protein_id": "ENSP00000595370.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 566,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925311.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.2626C>T",
"hgvs_p": "p.Arg876Trp",
"transcript": "XM_047441585.1",
"protein_id": "XP_047297541.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 904,
"cds_start": 2626,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"hgvs_c": "c.*741C>T",
"hgvs_p": null,
"transcript": "XM_017029065.3",
"protein_id": "XP_016884554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029065.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305663",
"gene_hgnc_id": null,
"hgvs_c": "n.32+83G>A",
"hgvs_p": null,
"transcript": "ENST00000812275.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000812275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305663",
"gene_hgnc_id": null,
"hgvs_c": "n.35+83G>A",
"hgvs_p": null,
"transcript": "ENST00000812276.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000812276.1"
}
],
"gene_symbol": "SCARF2",
"gene_hgnc_id": 19869,
"dbsnp": "rs747303381",
"frequency_reference_population": 0.0000120865,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000119571,
"gnomad_genomes_af": 0.0000131544,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20766279101371765,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.3171,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.156,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153334.7",
"gene_symbol": "SCARF2",
"hgnc_id": 19869,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2527C>T",
"hgvs_p": "p.Arg843Trp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000812275.1",
"gene_symbol": "ENSG00000305663",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.32+83G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}