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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: X-154770804-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154770804&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154770804,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001363.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "NM_001363.5",
"protein_id": "NP_001354.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 514,
"cds_start": 961,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369550.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "ENST00000369550.10",
"protein_id": "ENSP00000358563.5",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 514,
"cds_start": 961,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369550.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1185C>A",
"hgvs_p": null,
"transcript": "ENST00000620277.4",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000620277.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.997C>A",
"hgvs_p": "p.Leu333Ile",
"transcript": "ENST00000953351.1",
"protein_id": "ENSP00000623410.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 526,
"cds_start": 997,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953351.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "ENST00000939406.1",
"protein_id": "ENSP00000609465.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 512,
"cds_start": 961,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939406.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "NM_001142463.3",
"protein_id": "NP_001135935.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 509,
"cds_start": 961,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142463.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "ENST00000696575.1",
"protein_id": "ENSP00000512730.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 509,
"cds_start": 961,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696575.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "ENST00000696628.1",
"protein_id": "ENSP00000512765.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 508,
"cds_start": 961,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696628.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "ENST00000696577.1",
"protein_id": "ENSP00000512731.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 504,
"cds_start": 961,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696577.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.922C>A",
"hgvs_p": "p.Leu308Ile",
"transcript": "ENST00000696583.1",
"protein_id": "ENSP00000512736.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 501,
"cds_start": 922,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696583.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.874C>A",
"hgvs_p": "p.Leu292Ile",
"transcript": "ENST00000696580.1",
"protein_id": "ENSP00000512733.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 485,
"cds_start": 874,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696580.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Leu281Ile",
"transcript": "ENST00000696587.1",
"protein_id": "ENSP00000512737.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 474,
"cds_start": 841,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696587.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "ENST00000939408.1",
"protein_id": "ENSP00000609467.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 468,
"cds_start": 961,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939408.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.961C>A",
"hgvs_p": "p.Leu321Ile",
"transcript": "NM_001288747.2",
"protein_id": "NP_001275676.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 420,
"cds_start": 961,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288747.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Leu118Ile",
"transcript": "ENST00000696588.1",
"protein_id": "ENSP00000513251.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 311,
"cds_start": 352,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696588.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.337C>A",
"hgvs_p": "p.Leu113Ile",
"transcript": "ENST00000939407.1",
"protein_id": "ENSP00000609466.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 306,
"cds_start": 337,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.219C>A",
"hgvs_p": null,
"transcript": "ENST00000412124.5",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000412124.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.841C>A",
"hgvs_p": null,
"transcript": "ENST00000413910.6",
"protein_id": "ENSP00000400542.2",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413910.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*344C>A",
"hgvs_p": null,
"transcript": "ENST00000426673.6",
"protein_id": "ENSP00000407253.3",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426673.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.450C>A",
"hgvs_p": null,
"transcript": "ENST00000475966.1",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475966.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.746C>A",
"hgvs_p": null,
"transcript": "ENST00000484317.6",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484317.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1063C>A",
"hgvs_p": null,
"transcript": "ENST00000696579.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696579.1"
},
{
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}