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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: 1-197427559-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197427559&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197427559,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000367400.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Thr745Arg",
"transcript": "NM_201253.3",
"protein_id": "NP_957705.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1406,
"cds_start": 2234,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": "ENST00000367400.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Thr745Arg",
"transcript": "ENST00000367400.8",
"protein_id": "ENSP00000356370.3",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 1406,
"cds_start": 2234,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": "NM_201253.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Thr745Arg",
"transcript": "ENST00000638467.1",
"protein_id": "ENSP00000491102.1",
"transcript_support_level": 1,
"aa_start": 745,
"aa_end": null,
"aa_length": 1376,
"cds_start": 2234,
"cds_end": null,
"cds_length": 4131,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.1898C>G",
"hgvs_p": "p.Thr633Arg",
"transcript": "ENST00000367399.6",
"protein_id": "ENSP00000356369.2",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "n.2234C>G",
"hgvs_p": null,
"transcript": "ENST00000484075.5",
"protein_id": "ENSP00000433932.1",
"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": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2027C>G",
"hgvs_p": "p.Thr676Arg",
"transcript": "NM_001257965.2",
"protein_id": "NP_001244894.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 1382,
"cds_start": 2027,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2027C>G",
"hgvs_p": "p.Thr676Arg",
"transcript": "ENST00000535699.5",
"protein_id": "ENSP00000438786.1",
"transcript_support_level": 5,
"aa_start": 676,
"aa_end": null,
"aa_length": 1382,
"cds_start": 2027,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.1898C>G",
"hgvs_p": "p.Thr633Arg",
"transcript": "NM_001193640.2",
"protein_id": "NP_001180569.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.1115C>G",
"hgvs_p": "p.Thr372Arg",
"transcript": "ENST00000681519.1",
"protein_id": "ENSP00000505267.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 1003,
"cds_start": 1115,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.377C>G",
"hgvs_p": "p.Thr126Arg",
"transcript": "ENST00000367397.1",
"protein_id": "ENSP00000356367.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 674,
"cds_start": 377,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Thr745Arg",
"transcript": "XM_017000852.2",
"protein_id": "XP_016856341.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2234,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Thr745Arg",
"transcript": "XM_011509365.3",
"protein_id": "XP_011507667.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1349,
"cds_start": 2234,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2027C>G",
"hgvs_p": "p.Thr676Arg",
"transcript": "XM_047416572.1",
"protein_id": "XP_047272528.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2027,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2027C>G",
"hgvs_p": "p.Thr676Arg",
"transcript": "XM_047416573.1",
"protein_id": "XP_047272529.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 1337,
"cds_start": 2027,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 4812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Thr745Arg",
"transcript": "XM_011509367.2",
"protein_id": "XP_011507669.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1297,
"cds_start": 2234,
"cds_end": null,
"cds_length": 3894,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.1898C>G",
"hgvs_p": "p.Thr633Arg",
"transcript": "XM_047416574.1",
"protein_id": "XP_047272530.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1185,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.1373C>G",
"hgvs_p": "p.Thr458Arg",
"transcript": "XM_047416575.1",
"protein_id": "XP_047272531.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1373,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.677C>G",
"hgvs_p": "p.Thr226Arg",
"transcript": "XM_011509369.3",
"protein_id": "XP_011507671.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 887,
"cds_start": 677,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "n.135C>G",
"hgvs_p": null,
"transcript": "ENST00000480086.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "n.2187C>G",
"hgvs_p": null,
"transcript": "NR_047563.2",
"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": 4750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "n.2395C>G",
"hgvs_p": null,
"transcript": "NR_047564.2",
"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": 5200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2128+5603C>G",
"hgvs_p": null,
"transcript": "NM_001257966.2",
"protein_id": "NP_001244895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": -4,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2128+5603C>G",
"hgvs_p": null,
"transcript": "ENST00000538660.5",
"protein_id": "ENSP00000438091.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": -4,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"dbsnp": "rs28939720",
"frequency_reference_population": 0.000001368281,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136828,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9874284267425537,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.803,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.666,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000367400.8",
"gene_symbol": "CRB1",
"hgnc_id": 2343,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2234C>G",
"hgvs_p": "p.Thr745Arg"
}
],
"clinvar_disease": "Leber congenital amaurosis 8,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Leber congenital amaurosis 8|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}