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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: 9-78266603-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=78266603&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 78266603,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000643273.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2007T>C",
"hgvs_p": "p.Cys669Cys",
"transcript": "NM_001330691.3",
"protein_id": "NP_001317620.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 705,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": "ENST00000643273.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2007T>C",
"hgvs_p": "p.Cys669Cys",
"transcript": "ENST00000643273.2",
"protein_id": "ENSP00000496423.2",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 705,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": "NM_001330691.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Cys670Cys",
"transcript": "ENST00000376597.9",
"protein_id": "ENSP00000365782.4",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 722,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 2626,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "n.601T>C",
"hgvs_p": null,
"transcript": "ENST00000447629.2",
"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": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2025T>C",
"hgvs_p": "p.Cys675Cys",
"transcript": "ENST00000643499.1",
"protein_id": "ENSP00000495962.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 727,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Cys670Cys",
"transcript": "NM_001098802.3",
"protein_id": "NP_001092272.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 722,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2007T>C",
"hgvs_p": "p.Cys669Cys",
"transcript": "NM_001349838.2",
"protein_id": "NP_001336767.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 721,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2007T>C",
"hgvs_p": "p.Cys669Cys",
"transcript": "ENST00000645398.1",
"protein_id": "ENSP00000493822.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 721,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2028T>C",
"hgvs_p": "p.Cys676Cys",
"transcript": "ENST00000644208.1",
"protein_id": "ENSP00000493600.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 716,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2025T>C",
"hgvs_p": "p.Cys675Cys",
"transcript": "ENST00000376598.3",
"protein_id": "ENSP00000365783.3",
"transcript_support_level": 5,
"aa_start": 675,
"aa_end": null,
"aa_length": 711,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1977T>C",
"hgvs_p": "p.Cys659Cys",
"transcript": "ENST00000643347.1",
"protein_id": "ENSP00000494781.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 711,
"cds_start": 1977,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.2010T>C",
"hgvs_p": "p.Cys670Cys",
"transcript": "NM_001349839.2",
"protein_id": "NP_001336768.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 706,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 11236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1962T>C",
"hgvs_p": "p.Cys654Cys",
"transcript": "NM_032171.3",
"protein_id": "NP_115547.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 706,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1962T>C",
"hgvs_p": "p.Cys654Cys",
"transcript": "ENST00000415759.6",
"protein_id": "ENSP00000399286.2",
"transcript_support_level": 5,
"aa_start": 654,
"aa_end": null,
"aa_length": 706,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1962T>C",
"hgvs_p": "p.Cys654Cys",
"transcript": "ENST00000642669.1",
"protein_id": "ENSP00000495681.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 706,
"cds_start": 1962,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1959T>C",
"hgvs_p": "p.Cys653Cys",
"transcript": "NM_001330694.2",
"protein_id": "NP_001317623.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 705,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1959T>C",
"hgvs_p": "p.Cys653Cys",
"transcript": "ENST00000277082.9",
"protein_id": "ENSP00000277082.5",
"transcript_support_level": 2,
"aa_start": 653,
"aa_end": null,
"aa_length": 705,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1980T>C",
"hgvs_p": "p.Cys660Cys",
"transcript": "ENST00000647199.1",
"protein_id": "ENSP00000496384.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 696,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 2251,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1962T>C",
"hgvs_p": "p.Cys654Cys",
"transcript": "NM_001349840.2",
"protein_id": "NP_001336769.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 690,
"cds_start": 1962,
"cds_end": null,
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"cdna_start": 2238,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1959T>C",
"hgvs_p": "p.Cys653Cys",
"transcript": "NM_001330693.3",
"protein_id": "NP_001317622.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 689,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 11185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1959T>C",
"hgvs_p": "p.Cys653Cys",
"transcript": "ENST00000424347.6",
"protein_id": "ENSP00000411284.2",
"transcript_support_level": 5,
"aa_start": 653,
"aa_end": null,
"aa_length": 689,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 11198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1899T>C",
"hgvs_p": "p.Cys633Cys",
"transcript": "ENST00000642214.1",
"protein_id": "ENSP00000493662.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 685,
"cds_start": 1899,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.1911T>C",
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{
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{
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],
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},
{
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"downstream_gene_variant"
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}
],
"gene_symbol": "CEP78",
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"dbsnp": "rs57666183",
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"hom_count_reference_population": 169,
"allele_count_reference_population": 5844,
"gnomad_exomes_af": 0.00199062,
"gnomad_genomes_af": 0.019278,
"gnomad_exomes_ac": 2909,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.6000000238418579,
"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": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.177,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000643273.2",
"gene_symbol": "CEP78",
"hgnc_id": 25740,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2007T>C",
"hgvs_p": "p.Cys669Cys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}