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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: 3-49698776-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49698776&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49698776,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022064.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "NM_022064.5",
"protein_id": "NP_071347.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1314,
"cds_start": 592,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327697.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022064.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000327697.11",
"protein_id": "ENSP00000328287.6",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 1314,
"cds_start": 592,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022064.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327697.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Val52Leu",
"transcript": "ENST00000432042.5",
"protein_id": "ENSP00000392443.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 762,
"cds_start": 154,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432042.5"
},
{
"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": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "n.592G>C",
"hgvs_p": null,
"transcript": "ENST00000457726.5",
"protein_id": "ENSP00000394369.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000457726.5"
},
{
"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": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "n.673G>C",
"hgvs_p": null,
"transcript": "ENST00000486102.5",
"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": "ENST00000486102.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000859347.1",
"protein_id": "ENSP00000529406.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1314,
"cds_start": 592,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859347.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000931175.1",
"protein_id": "ENSP00000601234.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1314,
"cds_start": 592,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931175.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000859349.1",
"protein_id": "ENSP00000529408.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1313,
"cds_start": 592,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859349.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.589G>C",
"hgvs_p": "p.Val197Leu",
"transcript": "ENST00000955449.1",
"protein_id": "ENSP00000625508.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 1313,
"cds_start": 589,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955449.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000955454.1",
"protein_id": "ENSP00000625513.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1313,
"cds_start": 592,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955454.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000859352.1",
"protein_id": "ENSP00000529411.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1312,
"cds_start": 592,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859352.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000931174.1",
"protein_id": "ENSP00000601233.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1312,
"cds_start": 592,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931174.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000955447.1",
"protein_id": "ENSP00000625506.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1311,
"cds_start": 592,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955447.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000955455.1",
"protein_id": "ENSP00000625514.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1311,
"cds_start": 592,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955455.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000859348.1",
"protein_id": "ENSP00000529407.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1310,
"cds_start": 592,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859348.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000859354.1",
"protein_id": "ENSP00000529413.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1310,
"cds_start": 592,
"cds_end": null,
"cds_length": 3933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859354.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000955450.1",
"protein_id": "ENSP00000625509.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1307,
"cds_start": 592,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955450.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000955452.1",
"protein_id": "ENSP00000625511.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1304,
"cds_start": 592,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955452.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000859351.1",
"protein_id": "ENSP00000529410.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1300,
"cds_start": 592,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859351.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000859355.1",
"protein_id": "ENSP00000529414.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1289,
"cds_start": 592,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859355.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000955453.1",
"protein_id": "ENSP00000625512.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1286,
"cds_start": 592,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955453.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF123",
"gene_hgnc_id": 21148,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000859356.1",
"protein_id": "ENSP00000529415.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1283,
"cds_start": 592,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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}
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"message": null
}