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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: 3-138570379-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138570379&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138570379,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264982.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_024491.4",
"protein_id": "NP_077817.2",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 597,
"cds_start": 404,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "ENST00000264982.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000264982.8",
"protein_id": "ENSP00000264982.3",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 597,
"cds_start": 404,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": "NM_024491.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000481834.5",
"protein_id": "ENSP00000417465.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 554,
"cds_start": 404,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000464035.5",
"protein_id": "ENSP00000419743.1",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 212,
"cds_start": 404,
"cds_end": null,
"cds_length": 639,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001320599.2",
"protein_id": "NP_001307528.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 598,
"cds_start": 404,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001320598.2",
"protein_id": "NP_001307527.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 597,
"cds_start": 404,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "ENST00000484888.5",
"protein_id": "ENSP00000419231.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 597,
"cds_start": 404,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Ser117Asn",
"transcript": "NM_001288964.2",
"protein_id": "NP_001275893.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 579,
"cds_start": 350,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Ser117Asn",
"transcript": "ENST00000474781.5",
"protein_id": "ENSP00000419833.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 579,
"cds_start": 350,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Ser115Asn",
"transcript": "NM_001288965.2",
"protein_id": "NP_001275894.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 577,
"cds_start": 344,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001288966.2",
"protein_id": "NP_001275895.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 554,
"cds_start": 404,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.341G>A",
"hgvs_p": "p.Ser114Asn",
"transcript": "ENST00000468900.5",
"protein_id": "ENSP00000418131.2",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 292,
"cds_start": 341,
"cds_end": null,
"cds_length": 881,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Ser115Asn",
"transcript": "ENST00000462419.5",
"protein_id": "ENSP00000417819.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 258,
"cds_start": 344,
"cds_end": null,
"cds_length": 779,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001320600.1",
"protein_id": "NP_001307529.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
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"cds_start": 404,
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"cdna_start": 564,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "XM_017007271.2",
"protein_id": "XP_016862760.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 632,
"cds_start": 404,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "XM_024453780.2",
"protein_id": "XP_024309548.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "XM_047449017.1",
"protein_id": "XP_047304973.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 632,
"cds_start": 404,
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"cdna_start": 1116,
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"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Ser115Asn",
"transcript": "XM_017007273.2",
"protein_id": "XP_016862762.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 612,
"cds_start": 344,
"cds_end": null,
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"cdna_start": 501,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Ser115Asn",
"transcript": "XM_017007274.2",
"protein_id": "XP_016862763.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "XM_024453781.2",
"protein_id": "XP_024309549.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Ser115Asn",
"transcript": "XM_047449019.1",
"protein_id": "XP_047304975.1",
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"aa_length": 578,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.344G>A",
"hgvs_p": "p.Ser115Asn",
"transcript": "XM_047449020.1",
"protein_id": "XP_047304976.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 577,
"cds_start": 344,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Ser17Asn",
"transcript": "XM_017007276.3",
"protein_id": "XP_016862765.1",
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}