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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: 12-94400920-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=94400920&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 94400920,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000397809.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "NM_016122.3",
"protein_id": "NP_057206.2",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": "ENST00000397809.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "ENST00000397809.10",
"protein_id": "ENSP00000380911.4",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": "NM_016122.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "ENST00000339839.9",
"protein_id": "ENSP00000344655.5",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "n.380C>T",
"hgvs_p": null,
"transcript": "ENST00000547232.5",
"protein_id": "ENSP00000447783.1",
"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": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "n.323C>T",
"hgvs_p": null,
"transcript": "ENST00000549352.1",
"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": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "NM_001042399.2",
"protein_id": "NP_001035858.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "NM_001346457.2",
"protein_id": "NP_001333386.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "NM_001368037.1",
"protein_id": "NP_001354966.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "NM_001368038.1",
"protein_id": "NP_001354967.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Leu",
"transcript": "NM_001346458.2",
"protein_id": "NP_001333387.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 597,
"cds_start": 167,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Leu",
"transcript": "NM_001346459.2",
"protein_id": "NP_001333388.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 597,
"cds_start": 167,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Leu",
"transcript": "NM_001368039.1",
"protein_id": "NP_001354968.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 597,
"cds_start": 167,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Leu",
"transcript": "NM_001368040.1",
"protein_id": "NP_001354969.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 597,
"cds_start": 167,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "NM_001346460.2",
"protein_id": "NP_001333389.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 352,
"cds_start": 479,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "NM_001346461.2",
"protein_id": "NP_001333390.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 352,
"cds_start": 479,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "ENST00000547575.5",
"protein_id": "ENSP00000448913.1",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 352,
"cds_start": 479,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Leu",
"transcript": "NM_001346462.2",
"protein_id": "NP_001333391.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 248,
"cds_start": 167,
"cds_end": null,
"cds_length": 747,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "XM_011538424.3",
"protein_id": "XP_011536726.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "XM_017019385.3",
"protein_id": "XP_016874874.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
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"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "XM_017019386.3",
"protein_id": "XP_016874875.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "XM_047428922.1",
"protein_id": "XP_047284878.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"transcript": "XM_047428923.1",
"protein_id": "XP_047284879.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 701,
"cds_start": 479,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 8030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP83",
"gene_hgnc_id": 17966,
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Ser31Leu",
"transcript": "XM_017019389.3",
"protein_id": "XP_016874878.1",
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