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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: 6-70857922-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70857922&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70857922,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001044305.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.962G>C",
"hgvs_p": "p.Gly321Ala",
"transcript": "NM_001044305.3",
"protein_id": "NP_001037770.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 467,
"cds_start": 962,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": "ENST00000370455.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.962G>C",
"hgvs_p": "p.Gly321Ala",
"transcript": "ENST00000370455.8",
"protein_id": "ENSP00000359484.3",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 467,
"cds_start": 962,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": "NM_001044305.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.932G>C",
"hgvs_p": "p.Gly311Ala",
"transcript": "ENST00000619054.4",
"protein_id": "ENSP00000484538.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 457,
"cds_start": 932,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.881G>C",
"hgvs_p": "p.Gly294Ala",
"transcript": "ENST00000316999.9",
"protein_id": "ENSP00000313382.5",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 440,
"cds_start": 881,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT2",
"gene_hgnc_id": 922,
"hgvs_c": "c.*3741C>G",
"hgvs_p": null,
"transcript": "NM_080742.3",
"protein_id": "NP_542780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6587,
"mane_select": "ENST00000230053.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT2",
"gene_hgnc_id": 922,
"hgvs_c": "c.*3741C>G",
"hgvs_p": null,
"transcript": "ENST00000230053.11",
"protein_id": "ENSP00000230053.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6587,
"mane_select": "NM_080742.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GAT2",
"gene_hgnc_id": 922,
"hgvs_c": "c.*3741C>G",
"hgvs_p": null,
"transcript": "ENST00000615536.1",
"protein_id": "ENSP00000481320.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.932G>C",
"hgvs_p": "p.Gly311Ala",
"transcript": "NM_001281440.1",
"protein_id": "NP_001268369.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 457,
"cds_start": 932,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.881G>C",
"hgvs_p": "p.Gly294Ala",
"transcript": "NM_021940.5",
"protein_id": "NP_068759.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 440,
"cds_start": 881,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.881G>C",
"hgvs_p": "p.Gly294Ala",
"transcript": "NM_001281439.2",
"protein_id": "NP_001268368.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 436,
"cds_start": 881,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.881G>C",
"hgvs_p": "p.Gly294Ala",
"transcript": "ENST00000370452.7",
"protein_id": "ENSP00000359481.3",
"transcript_support_level": 2,
"aa_start": 294,
"aa_end": null,
"aa_length": 436,
"cds_start": 881,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.881G>C",
"hgvs_p": "p.Gly294Ala",
"transcript": "XM_047419227.1",
"protein_id": "XP_047275183.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 440,
"cds_start": 881,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.851G>C",
"hgvs_p": "p.Gly284Ala",
"transcript": "XM_047419228.1",
"protein_id": "XP_047275184.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 430,
"cds_start": 851,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.881G>C",
"hgvs_p": "p.Gly294Ala",
"transcript": "XM_011536047.4",
"protein_id": "XP_011534349.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 429,
"cds_start": 881,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.707G>C",
"hgvs_p": "p.Gly236Ala",
"transcript": "XM_047419229.1",
"protein_id": "XP_047275185.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 382,
"cds_start": 707,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"dbsnp": "rs374744107",
"frequency_reference_population": 6.843381e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84338e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3209605813026428,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7940000295639038,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.209,
"revel_prediction": "Benign",
"alphamissense_score": 0.1007,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.161,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.41,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.929072407430919,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001044305.3",
"gene_symbol": "SMAP1",
"hgnc_id": 19651,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.962G>C",
"hgvs_p": "p.Gly321Ala"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_080742.3",
"gene_symbol": "B3GAT2",
"hgnc_id": 922,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*3741C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}