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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: 12-112405920-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112405920&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112405920,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000970.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "NM_000970.6",
"protein_id": "NP_000961.2",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000202773.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000970.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000202773.14",
"protein_id": "ENSP00000202773.9",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000970.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000202773.14"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000424576.6",
"protein_id": "ENSP00000403172.2",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424576.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.725A>G",
"hgvs_p": "p.Tyr242Cys",
"transcript": "ENST00000935343.1",
"protein_id": "ENSP00000605402.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 314,
"cds_start": 725,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935343.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.653A>G",
"hgvs_p": "p.Tyr218Cys",
"transcript": "ENST00000895617.1",
"protein_id": "ENSP00000565676.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 290,
"cds_start": 653,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895617.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.653A>G",
"hgvs_p": "p.Tyr218Cys",
"transcript": "ENST00000935344.1",
"protein_id": "ENSP00000605403.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 290,
"cds_start": 653,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935344.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "NM_001024662.3",
"protein_id": "NP_001019833.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024662.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "NM_001320137.2",
"protein_id": "NP_001307066.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320137.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "NM_001320138.2",
"protein_id": "NP_001307067.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320138.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "NM_001320139.2",
"protein_id": "NP_001307068.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320139.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "NM_001320140.2",
"protein_id": "NP_001307069.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320140.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "NM_001320141.2",
"protein_id": "NP_001307070.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320141.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000895614.1",
"protein_id": "ENSP00000565673.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895614.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000895618.1",
"protein_id": "ENSP00000565677.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895618.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000895619.1",
"protein_id": "ENSP00000565678.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895619.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000895620.1",
"protein_id": "ENSP00000565679.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895620.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000935347.1",
"protein_id": "ENSP00000605406.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935347.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000955984.1",
"protein_id": "ENSP00000626043.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 288,
"cds_start": 647,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955984.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Tyr213Cys",
"transcript": "ENST00000935336.1",
"protein_id": "ENSP00000605395.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 285,
"cds_start": 638,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935336.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000935345.1",
"protein_id": "ENSP00000605404.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 285,
"cds_start": 647,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935345.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.638A>G",
"hgvs_p": "p.Tyr213Cys",
"transcript": "ENST00000935346.1",
"protein_id": "ENSP00000605405.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 285,
"cds_start": 638,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935346.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL6",
"gene_hgnc_id": 10362,
"hgvs_c": "c.647A>G",
"hgvs_p": "p.Tyr216Cys",
"transcript": "ENST00000935348.1",
"protein_id": "ENSP00000605407.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 285,
"cds_start": 647,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"phenotype_combined": "not specified",
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}
],
"message": null
}