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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: 3-69062095-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69062095&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69062095,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003968.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Lys260Glu",
"transcript": "NM_003968.4",
"protein_id": "NP_003959.3",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 463,
"cds_start": 778,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "ENST00000361055.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003968.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Lys260Glu",
"transcript": "ENST00000361055.9",
"protein_id": "ENSP00000354340.4",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 463,
"cds_start": 778,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "NM_003968.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361055.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Lys260Glu",
"transcript": "ENST00000854662.1",
"protein_id": "ENSP00000524721.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 468,
"cds_start": 778,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854662.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Lys260Glu",
"transcript": "ENST00000854663.1",
"protein_id": "ENSP00000524722.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 462,
"cds_start": 778,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854663.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.745A>G",
"hgvs_p": "p.Lys249Glu",
"transcript": "ENST00000854668.1",
"protein_id": "ENSP00000524727.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 452,
"cds_start": 745,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854668.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.736A>G",
"hgvs_p": "p.Lys246Glu",
"transcript": "NM_198195.2",
"protein_id": "NP_937838.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 449,
"cds_start": 736,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198195.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.736A>G",
"hgvs_p": "p.Lys246Glu",
"transcript": "ENST00000349511.8",
"protein_id": "ENSP00000340041.4",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 449,
"cds_start": 736,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349511.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Lys260Glu",
"transcript": "ENST00000854661.1",
"protein_id": "ENSP00000524720.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 449,
"cds_start": 778,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854661.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.736A>G",
"hgvs_p": "p.Lys246Glu",
"transcript": "ENST00000854660.1",
"protein_id": "ENSP00000524719.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 448,
"cds_start": 736,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854660.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Lys260Glu",
"transcript": "ENST00000968751.1",
"protein_id": "ENSP00000638810.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 445,
"cds_start": 778,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968751.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Lys233Glu",
"transcript": "ENST00000854659.1",
"protein_id": "ENSP00000524718.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 436,
"cds_start": 697,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854659.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Lys260Glu",
"transcript": "ENST00000931269.1",
"protein_id": "ENSP00000601328.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 436,
"cds_start": 778,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931269.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Lys233Glu",
"transcript": "ENST00000968749.1",
"protein_id": "ENSP00000638808.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 436,
"cds_start": 697,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968749.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.736A>G",
"hgvs_p": "p.Lys246Glu",
"transcript": "ENST00000854666.1",
"protein_id": "ENSP00000524725.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 435,
"cds_start": 736,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854666.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.736A>G",
"hgvs_p": "p.Lys246Glu",
"transcript": "ENST00000968753.1",
"protein_id": "ENSP00000638812.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 431,
"cds_start": 736,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968753.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Lys219Glu",
"transcript": "NM_001363861.1",
"protein_id": "NP_001350790.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 422,
"cds_start": 655,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363861.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Lys219Glu",
"transcript": "ENST00000415609.6",
"protein_id": "ENSP00000400294.2",
"transcript_support_level": 5,
"aa_start": 219,
"aa_end": null,
"aa_length": 422,
"cds_start": 655,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415609.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Lys233Glu",
"transcript": "ENST00000968747.1",
"protein_id": "ENSP00000638806.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 697,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968747.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Lys219Glu",
"transcript": "ENST00000968752.1",
"protein_id": "ENSP00000638811.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 421,
"cds_start": 655,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968752.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.622A>G",
"hgvs_p": "p.Lys208Glu",
"transcript": "ENST00000854667.1",
"protein_id": "ENSP00000524726.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 411,
"cds_start": 622,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854667.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Lys206Glu",
"transcript": "ENST00000968750.1",
"protein_id": "ENSP00000638809.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 409,
"cds_start": 616,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968750.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.778A>G",
"hgvs_p": "p.Lys260Glu",
"transcript": "ENST00000968748.1",
"protein_id": "ENSP00000638807.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 408,
"cds_start": 778,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 808,
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"custom_annotations": null
}
],
"message": null
}