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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: 14-77428509-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77428509&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77428509,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000557658.6",
"consequences": [
{
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null,
"transcript": "NM_001193315.2",
"protein_id": "NP_001180244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": "ENST00000557658.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null,
"transcript": "ENST00000557658.6",
"protein_id": "ENSP00000452191.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": "NM_001193315.2",
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null,
"transcript": "ENST00000343765.6",
"protein_id": "ENSP00000339122.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2761,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1435-35G>C",
"hgvs_p": null,
"transcript": "ENST00000556412.4",
"protein_id": "ENSP00000451857.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": -4,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1832,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null,
"transcript": "NM_001193314.2",
"protein_id": "NP_001180243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2930,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null,
"transcript": "NM_001193317.2",
"protein_id": "NP_001180246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2707,
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null,
"transcript": "NM_001400326.1",
"protein_id": "NP_001387255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2849,
"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": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null,
"transcript": "NM_022067.4",
"protein_id": "NP_071350.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2801,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null,
"transcript": "ENST00000553888.5",
"protein_id": "ENSP00000452181.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2934,
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1324-35G>C",
"hgvs_p": null,
"transcript": "NM_001400327.1",
"protein_id": "NP_001387256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": -4,
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"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1270-35G>C",
"hgvs_p": null,
"transcript": "NM_001400330.1",
"protein_id": "NP_001387259.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 464,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 17,
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"gene_symbol": "VIPAS39",
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"hgvs_c": "c.1270-35G>C",
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"transcript": "NM_001400331.1",
"protein_id": "NP_001387260.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 18,
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"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1270-35G>C",
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"transcript": "NM_001400332.1",
"protein_id": "NP_001387261.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 17,
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"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1264-35G>C",
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"transcript": "NM_001400333.1",
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},
{
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],
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"gene_symbol": "VIPAS39",
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"transcript": "NM_001400334.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "VIPAS39",
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"hgvs_c": "c.1356+497G>C",
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},
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],
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"gene_symbol": "VIPAS39",
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"hgvs_c": "c.1222-35G>C",
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"transcript": "NM_001400336.1",
"protein_id": "NP_001387265.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1210-35G>C",
"hgvs_p": null,
"transcript": "NM_001193316.2",
"protein_id": "NP_001180245.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 20,
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"gene_symbol": "VIPAS39",
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"transcript": "NM_001400324.1",
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],
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"gene_symbol": "VIPAS39",
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},
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],
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"gene_symbol": "VIPAS39",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1210-35G>C",
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"transcript": "ENST00000448935.6",
"protein_id": "ENSP00000404815.2",
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"aa_start": null,
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"aa_length": 444,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1117-35G>C",
"hgvs_p": null,
"transcript": "NM_001400337.1",
"protein_id": "NP_001387266.1",
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"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1078-35G>C",
"hgvs_p": null,
"transcript": "NM_001400338.1",
"protein_id": "NP_001387267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2251,
"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": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "c.1072-35G>C",
"hgvs_p": null,
"transcript": "NM_001400339.1",
"protein_id": "NP_001387268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": -4,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"hgvs_c": "n.1557-35G>C",
"hgvs_p": null,
"transcript": "NR_174476.1",
"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": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VIPAS39",
"gene_hgnc_id": 20347,
"dbsnp": "rs113067724",
"frequency_reference_population": 0.01893143,
"hom_count_reference_population": 316,
"allele_count_reference_population": 30272,
"gnomad_exomes_af": 0.0193424,
"gnomad_genomes_af": 0.0150263,
"gnomad_exomes_ac": 27984,
"gnomad_genomes_ac": 2288,
"gnomad_exomes_homalt": 297,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.031,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000557658.6",
"gene_symbol": "VIPAS39",
"hgnc_id": 20347,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1357-35G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}