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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: 9-78248353-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=78248353&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 78248353,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000643273.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "NM_001330691.3",
"protein_id": "NP_001317620.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 705,
"cds_start": 955,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": "ENST00000643273.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000643273.2",
"protein_id": "ENSP00000496423.2",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 705,
"cds_start": 955,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": "NM_001330691.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000376597.9",
"protein_id": "ENSP00000365782.4",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 722,
"cds_start": 955,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000643499.1",
"protein_id": "ENSP00000495962.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 727,
"cds_start": 955,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "NM_001098802.3",
"protein_id": "NP_001092272.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 722,
"cds_start": 955,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "NM_001349838.2",
"protein_id": "NP_001336767.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 721,
"cds_start": 955,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000645398.1",
"protein_id": "ENSP00000493822.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 721,
"cds_start": 955,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000644208.1",
"protein_id": "ENSP00000493600.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 716,
"cds_start": 955,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000376598.3",
"protein_id": "ENSP00000365783.3",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 711,
"cds_start": 955,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000643347.1",
"protein_id": "ENSP00000494781.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 711,
"cds_start": 955,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "NM_001349839.2",
"protein_id": "NP_001336768.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 706,
"cds_start": 955,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 11236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "NM_032171.3",
"protein_id": "NP_115547.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 706,
"cds_start": 955,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000415759.6",
"protein_id": "ENSP00000399286.2",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 706,
"cds_start": 955,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000642669.1",
"protein_id": "ENSP00000495681.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 706,
"cds_start": 955,
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"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "NM_001330694.2",
"protein_id": "NP_001317623.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 705,
"cds_start": 955,
"cds_end": null,
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"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000277082.9",
"protein_id": "ENSP00000277082.5",
"transcript_support_level": 2,
"aa_start": 319,
"aa_end": null,
"aa_length": 705,
"cds_start": 955,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000647199.1",
"protein_id": "ENSP00000496384.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 696,
"cds_start": 955,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 1226,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "NM_001349840.2",
"protein_id": "NP_001336769.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 690,
"cds_start": 955,
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"cdna_start": 1231,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "NM_001330693.3",
"protein_id": "NP_001317622.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 689,
"cds_start": 955,
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"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 11185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000424347.6",
"protein_id": "ENSP00000411284.2",
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"aa_start": 319,
"aa_end": null,
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"cds_start": 955,
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"cdna_start": 1244,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"transcript": "ENST00000642214.1",
"protein_id": "ENSP00000493662.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 685,
"cds_start": 955,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP78",
"gene_hgnc_id": 25740,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Glu281Lys",
"transcript": "ENST00000643847.1",
"protein_id": "ENSP00000494276.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 673,
"cds_start": 841,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1087,
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}
],
"message": null
}