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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: 1-228140355-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=228140355&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 228140355,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001242840.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "NM_001159390.2",
"protein_id": "NP_001152862.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 218,
"cds_start": 53,
"cds_end": null,
"cds_length": 657,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 935,
"mane_select": "ENST00000453943.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159390.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000453943.6",
"protein_id": "ENSP00000401832.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 218,
"cds_start": 53,
"cds_end": null,
"cds_length": 657,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 935,
"mane_select": "NM_001159390.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453943.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "n.53C>A",
"hgvs_p": null,
"transcript": "ENST00000312726.9",
"protein_id": "ENSP00000317659.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000312726.9"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885285.1",
"protein_id": "ENSP00000555344.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 258,
"cds_start": 53,
"cds_end": null,
"cds_length": 777,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885285.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "NM_001242840.3",
"protein_id": "NP_001229769.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 241,
"cds_start": 53,
"cds_end": null,
"cds_length": 726,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242840.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000366728.6",
"protein_id": "ENSP00000355689.2",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 241,
"cds_start": 53,
"cds_end": null,
"cds_length": 726,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366728.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000366723.5",
"protein_id": "ENSP00000355684.2",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 235,
"cds_start": 53,
"cds_end": null,
"cds_length": 708,
"cdna_start": 54,
"cdna_end": null,
"cdna_length": 845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366723.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000949977.1",
"protein_id": "ENSP00000620036.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 231,
"cds_start": 53,
"cds_end": null,
"cds_length": 696,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949977.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000949978.1",
"protein_id": "ENSP00000620037.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 228,
"cds_start": 53,
"cds_end": null,
"cds_length": 687,
"cdna_start": 55,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949978.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885286.1",
"protein_id": "ENSP00000555345.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 217,
"cds_start": 53,
"cds_end": null,
"cds_length": 654,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885286.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885279.1",
"protein_id": "ENSP00000555338.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 216,
"cds_start": 53,
"cds_end": null,
"cds_length": 651,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885279.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885280.1",
"protein_id": "ENSP00000555339.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 216,
"cds_start": 53,
"cds_end": null,
"cds_length": 651,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885280.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885281.1",
"protein_id": "ENSP00000555340.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 216,
"cds_start": 53,
"cds_end": null,
"cds_length": 651,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885281.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885287.1",
"protein_id": "ENSP00000555346.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 215,
"cds_start": 53,
"cds_end": null,
"cds_length": 648,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885287.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885283.1",
"protein_id": "ENSP00000555342.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 214,
"cds_start": 53,
"cds_end": null,
"cds_length": 645,
"cdna_start": 77,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885283.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885284.1",
"protein_id": "ENSP00000555343.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 214,
"cds_start": 53,
"cds_end": null,
"cds_length": 645,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885284.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000949976.1",
"protein_id": "ENSP00000620035.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 213,
"cds_start": 53,
"cds_end": null,
"cds_length": 642,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949976.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.23C>A",
"hgvs_p": "p.Pro8Gln",
"transcript": "ENST00000366721.5",
"protein_id": "ENSP00000355682.2",
"transcript_support_level": 3,
"aa_start": 8,
"aa_end": null,
"aa_length": 210,
"cds_start": 23,
"cds_end": null,
"cds_length": 633,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366721.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000885282.1",
"protein_id": "ENSP00000555341.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 204,
"cds_start": 53,
"cds_end": null,
"cds_length": 615,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885282.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000462807.5",
"protein_id": "ENSP00000516629.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 183,
"cds_start": 53,
"cds_end": null,
"cds_length": 553,
"cdna_start": 128,
"cdna_end": null,
"cdna_length": 628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462807.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.53C>A",
"hgvs_p": "p.Pro18Gln",
"transcript": "ENST00000940513.1",
"protein_id": "ENSP00000610572.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 180,
"cds_start": 53,
"cds_end": null,
"cds_length": 543,
"cdna_start": 75,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUK1",
"gene_hgnc_id": 4693,
"hgvs_c": "c.-176C>A",
"hgvs_p": null,
"transcript": "NM_000858.7",
"protein_id": "NP_000849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": null,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000858.7"
},
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