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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: 5-176348343-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176348343&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 176348343,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020444.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.473A>T",
"hgvs_p": "p.Gln158Leu",
"transcript": "NM_020444.5",
"protein_id": "NP_065177.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 305,
"cds_start": 473,
"cds_end": null,
"cds_length": 918,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": "ENST00000298569.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.473A>T",
"hgvs_p": "p.Gln158Leu",
"transcript": "ENST00000298569.9",
"protein_id": "ENSP00000298569.4",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 305,
"cds_start": 473,
"cds_end": null,
"cds_length": 918,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": "NM_020444.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.473A>T",
"hgvs_p": "p.Gln158Leu",
"transcript": "ENST00000510164.5",
"protein_id": "ENSP00000421061.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 305,
"cds_start": 473,
"cds_end": null,
"cds_length": 918,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.Gln139Leu",
"transcript": "ENST00000393725.6",
"protein_id": "ENSP00000377326.2",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 286,
"cds_start": 416,
"cds_end": null,
"cds_length": 861,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 2700,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.260A>T",
"hgvs_p": null,
"transcript": "ENST00000393728.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.473A>T",
"hgvs_p": "p.Gln158Leu",
"transcript": "NM_001079685.3",
"protein_id": "NP_001073153.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 305,
"cds_start": 473,
"cds_end": null,
"cds_length": 918,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.Gln139Leu",
"transcript": "NM_001079684.3",
"protein_id": "NP_001073152.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 286,
"cds_start": 416,
"cds_end": null,
"cds_length": 861,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.Gln139Leu",
"transcript": "NM_001287336.2",
"protein_id": "NP_001274265.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 286,
"cds_start": 416,
"cds_end": null,
"cds_length": 861,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.Gln139Leu",
"transcript": "ENST00000614420.4",
"protein_id": "ENSP00000479627.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 286,
"cds_start": 416,
"cds_end": null,
"cds_length": 861,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.230A>T",
"hgvs_p": "p.Gln77Leu",
"transcript": "NM_001287335.2",
"protein_id": "NP_001274264.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 224,
"cds_start": 230,
"cds_end": null,
"cds_length": 675,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.230A>T",
"hgvs_p": "p.Gln77Leu",
"transcript": "ENST00000620366.4",
"protein_id": "ENSP00000477518.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 224,
"cds_start": 230,
"cds_end": null,
"cds_length": 675,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.416A>T",
"hgvs_p": "p.Gln139Leu",
"transcript": "XM_005265946.5",
"protein_id": "XP_005266003.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 286,
"cds_start": 416,
"cds_end": null,
"cds_length": 861,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.230A>T",
"hgvs_p": "p.Gln77Leu",
"transcript": "XM_017009651.2",
"protein_id": "XP_016865140.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 224,
"cds_start": 230,
"cds_end": null,
"cds_length": 675,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.230A>T",
"hgvs_p": "p.Gln77Leu",
"transcript": "XM_047417400.1",
"protein_id": "XP_047273356.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 224,
"cds_start": 230,
"cds_end": null,
"cds_length": 675,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.230A>T",
"hgvs_p": "p.Gln77Leu",
"transcript": "XM_047417401.1",
"protein_id": "XP_047273357.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 224,
"cds_start": 230,
"cds_end": null,
"cds_length": 675,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.167A>T",
"hgvs_p": "p.Gln56Leu",
"transcript": "XM_047417402.1",
"protein_id": "XP_047273358.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 203,
"cds_start": 167,
"cds_end": null,
"cds_length": 612,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "c.42A>T",
"hgvs_p": "p.Thr14Thr",
"transcript": "ENST00000533553.5",
"protein_id": "ENSP00000433506.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 40,
"cds_start": 42,
"cds_end": null,
"cds_length": 123,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 560,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.340A>T",
"hgvs_p": null,
"transcript": "NR_109796.1",
"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": 2324,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.307A>T",
"hgvs_p": null,
"transcript": "NR_109797.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2291,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.453A>T",
"hgvs_p": null,
"transcript": "NR_109798.1",
"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": 2437,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.415A>T",
"hgvs_p": null,
"transcript": "NR_109799.1",
"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": 2399,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"hgvs_c": "n.328A>T",
"hgvs_p": null,
"transcript": "NR_109800.1",
"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": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000250909",
"gene_hgnc_id": 41234,
"hgvs_c": "n.88+315T>A",
"hgvs_p": null,
"transcript": "ENST00000508187.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIAA1191",
"gene_hgnc_id": 29209,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5719257593154907,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.2163,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.588,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 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_020444.5",
"gene_symbol": "KIAA1191",
"hgnc_id": 29209,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.473A>T",
"hgvs_p": "p.Gln158Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000508187.1",
"gene_symbol": "ENSG00000250909",
"hgnc_id": 41234,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.88+315T>A",
"hgvs_p": null
}
],
"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
}