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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: 5-126545020-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=126545020&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 126545020,
"ref": "C",
"alt": "T",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000409134.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1566-1G>A",
"hgvs_p": null,
"transcript": "NM_001182.5",
"protein_id": "NP_001173.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": -4,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": "ENST00000409134.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1566-1G>A",
"hgvs_p": null,
"transcript": "ENST00000409134.8",
"protein_id": "ENSP00000387123.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": -4,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": "NM_001182.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1611-1G>A",
"hgvs_p": null,
"transcript": "ENST00000636879.1",
"protein_id": "ENSP00000490811.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1562+1304G>A",
"hgvs_p": null,
"transcript": "ENST00000635851.1",
"protein_id": "ENSP00000490819.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1557-1G>A",
"hgvs_p": null,
"transcript": "ENST00000637272.1",
"protein_id": "ENSP00000489686.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1565+1304G>A",
"hgvs_p": null,
"transcript": "ENST00000637782.1",
"protein_id": "ENSP00000490024.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1482-1G>A",
"hgvs_p": null,
"transcript": "NM_001201377.2",
"protein_id": "NP_001188306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 511,
"cds_start": -4,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1446-1G>A",
"hgvs_p": null,
"transcript": "ENST00000636743.1",
"protein_id": "ENSP00000489725.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1386-1G>A",
"hgvs_p": null,
"transcript": "ENST00000637206.1",
"protein_id": "ENSP00000489895.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1374-1G>A",
"hgvs_p": null,
"transcript": "NM_001202404.2",
"protein_id": "NP_001189333.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1374-1G>A",
"hgvs_p": null,
"transcript": "ENST00000553117.5",
"protein_id": "ENSP00000448593.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
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"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1365-1G>A",
"hgvs_p": null,
"transcript": "ENST00000636886.1",
"protein_id": "ENSP00000490371.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
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"hgvs_c": "n.*1475-1G>A",
"hgvs_p": null,
"transcript": "ENST00000458249.6",
"protein_id": "ENSP00000403929.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ALDH7A1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.1993-1G>A",
"hgvs_p": null,
"transcript": "ENST00000497231.7",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
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"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.1331-1G>A",
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"transcript": "ENST00000636286.1",
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.1100-1G>A",
"hgvs_p": null,
"transcript": "ENST00000636482.1",
"protein_id": null,
"transcript_support_level": 5,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1375-1G>A",
"hgvs_p": null,
"transcript": "ENST00000636808.1",
"protein_id": "ENSP00000490833.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1432-1G>A",
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"transcript": "ENST00000636872.1",
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},
{
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"protein_coding": false,
"strand": false,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*529-1G>A",
"hgvs_p": null,
"transcript": "ENST00000637292.1",
"protein_id": "ENSP00000490655.1",
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},
{
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"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.*1410-1G>A",
"hgvs_p": null,
"transcript": "ENST00000638008.1",
"protein_id": "ENSP00000490400.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "n.1512-1G>A",
"hgvs_p": null,
"transcript": "ENST00000638010.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"dbsnp": "rs140845195",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.88718e-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": 0.2199999988079071,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.949999988079071,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.877,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.78,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999986675681007,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000409134.8",
"gene_symbol": "ALDH7A1",
"hgnc_id": 877,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1566-1G>A",
"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
}