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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: 11-6395932-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6395932&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 6395932,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000609360.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Ser",
"transcript": "NM_001164.5",
"protein_id": "NP_001155.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 710,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": "ENST00000609360.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Ser",
"transcript": "ENST00000609360.6",
"protein_id": "ENSP00000477213.1",
"transcript_support_level": 5,
"aa_start": 607,
"aa_end": null,
"aa_length": 710,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": "NM_001164.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1813C>A",
"hgvs_p": "p.Arg605Ser",
"transcript": "ENST00000311051.7",
"protein_id": "ENSP00000311912.3",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 708,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1813C>A",
"hgvs_p": "p.Arg605Ser",
"transcript": "NM_145689.3",
"protein_id": "NP_663722.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 708,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1935,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1813C>A",
"hgvs_p": "p.Arg605Ser",
"transcript": "ENST00000299402.10",
"protein_id": "ENSP00000299402.6",
"transcript_support_level": 5,
"aa_start": 605,
"aa_end": null,
"aa_length": 708,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Ser",
"transcript": "NM_001257319.3",
"protein_id": "NP_001244248.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 490,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Ser",
"transcript": "ENST00000608655.6",
"protein_id": "ENSP00000476846.1",
"transcript_support_level": 5,
"aa_start": 387,
"aa_end": null,
"aa_length": 490,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1153C>A",
"hgvs_p": "p.Arg385Ser",
"transcript": "NM_001257323.3",
"protein_id": "NP_001244252.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 488,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1153C>A",
"hgvs_p": "p.Arg385Ser",
"transcript": "ENST00000530885.5",
"protein_id": "ENSP00000433338.1",
"transcript_support_level": 2,
"aa_start": 385,
"aa_end": null,
"aa_length": 488,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Arg372Ser",
"transcript": "NM_001257325.3",
"protein_id": "NP_001244254.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 475,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Arg372Ser",
"transcript": "ENST00000609331.5",
"protein_id": "ENSP00000477069.1",
"transcript_support_level": 5,
"aa_start": 372,
"aa_end": null,
"aa_length": 475,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Ser",
"transcript": "NM_001257320.2",
"protein_id": "NP_001244249.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 451,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Ser",
"transcript": "NM_001257321.2",
"protein_id": "NP_001244250.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 451,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Ser",
"transcript": "NM_001257326.2",
"protein_id": "NP_001244255.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 451,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Ser",
"transcript": "ENST00000608394.5",
"protein_id": "ENSP00000476442.1",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 451,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1423,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Ser",
"transcript": "ENST00000608645.5",
"protein_id": "ENSP00000476646.1",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 451,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Arg348Ser",
"transcript": "ENST00000608704.5",
"protein_id": "ENSP00000476871.1",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 451,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "c.394C>A",
"hgvs_p": "p.Arg132Ser",
"transcript": "ENST00000529519.5",
"protein_id": "ENSP00000477022.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 235,
"cds_start": 394,
"cds_end": null,
"cds_length": 708,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "n.768C>A",
"hgvs_p": null,
"transcript": "ENST00000524626.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "n.506C>A",
"hgvs_p": null,
"transcript": "ENST00000526240.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "n.1819C>A",
"hgvs_p": null,
"transcript": "ENST00000608435.5",
"protein_id": "ENSP00000476776.1",
"transcript_support_level": 5,
"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": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"hgvs_c": "n.1960C>A",
"hgvs_p": null,
"transcript": "NR_047512.2",
"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": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APBB1",
"gene_hgnc_id": 581,
"dbsnp": "rs750182977",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9118205308914185,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.639,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.666,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000609360.6",
"gene_symbol": "APBB1",
"hgnc_id": 581,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1819C>A",
"hgvs_p": "p.Arg607Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}