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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: 11-45927439-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45927439&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45927439,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152312.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "NM_001300721.2",
"protein_id": "NP_001287650.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 721,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000401752.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300721.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000401752.6",
"protein_id": "ENSP00000385235.1",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 721,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300721.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401752.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000325468.9",
"protein_id": "ENSP00000324570.5",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 721,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325468.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "n.521C>T",
"hgvs_p": null,
"transcript": "ENST00000530437.5",
"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": "ENST00000530437.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000861591.1",
"protein_id": "ENSP00000531650.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 737,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861591.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000861590.1",
"protein_id": "ENSP00000531649.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 736,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861590.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000861593.1",
"protein_id": "ENSP00000531652.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 736,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861593.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000926373.1",
"protein_id": "ENSP00000596432.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 736,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926373.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1492C>T",
"hgvs_p": "p.Arg498Trp",
"transcript": "ENST00000926377.1",
"protein_id": "ENSP00000596436.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 735,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926377.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "NM_152312.5",
"protein_id": "NP_689525.3",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 721,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152312.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000531526.5",
"protein_id": "ENSP00000432869.1",
"transcript_support_level": 2,
"aa_start": 484,
"aa_end": null,
"aa_length": 721,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531526.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000861589.1",
"protein_id": "ENSP00000531648.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 721,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861589.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp",
"transcript": "ENST00000926368.1",
"protein_id": "ENSP00000596427.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 721,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926368.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Arg482Trp",
"transcript": "ENST00000926370.1",
"protein_id": "ENSP00000596429.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 719,
"cds_start": 1444,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926370.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1441C>T",
"hgvs_p": "p.Arg481Trp",
"transcript": "ENST00000861592.1",
"protein_id": "ENSP00000531651.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 718,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861592.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1441C>T",
"hgvs_p": "p.Arg481Trp",
"transcript": "ENST00000926378.1",
"protein_id": "ENSP00000596437.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 718,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926378.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Trp",
"transcript": "NM_001300722.2",
"protein_id": "NP_001287651.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 690,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300722.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Trp",
"transcript": "ENST00000529052.5",
"protein_id": "ENSP00000431932.1",
"transcript_support_level": 2,
"aa_start": 453,
"aa_end": null,
"aa_length": 690,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529052.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1345C>T",
"hgvs_p": "p.Arg449Trp",
"transcript": "ENST00000926372.1",
"protein_id": "ENSP00000596431.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 686,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926372.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Trp",
"transcript": "ENST00000926376.1",
"protein_id": "ENSP00000596435.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 667,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926376.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Trp",
"transcript": "ENST00000926371.1",
"protein_id": "ENSP00000596430.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 652,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926371.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Arg412Trp",
"transcript": "ENST00000926375.1",
"protein_id": "ENSP00000596434.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 649,
"cds_start": 1234,
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"hgvs_p": null,
"transcript": "ENST00000528236.5",
"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": "ENST00000528236.5"
}
],
"gene_symbol": "LARGE2",
"gene_hgnc_id": 16522,
"dbsnp": "rs148997856",
"frequency_reference_population": 0.000017347451,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000150495,
"gnomad_genomes_af": 0.0000394151,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9704157710075378,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.708,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.517,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.642,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_152312.5",
"gene_symbol": "LARGE2",
"hgnc_id": 16522,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1450C>T",
"hgvs_p": "p.Arg484Trp"
}
],
"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
}