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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: 13-26214743-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=26214743&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 26214743,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005977.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "NM_005977.4",
"protein_id": "NP_005968.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": "ENST00000381588.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005977.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000381588.9",
"protein_id": "ENSP00000371000.4",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": "NM_005977.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381588.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000346166.7",
"protein_id": "ENSP00000342121.3",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346166.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000381570.7",
"protein_id": "ENSP00000370982.3",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381570.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "n.768+731A>G",
"hgvs_p": null,
"transcript": "ENST00000468480.5",
"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": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468480.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "NM_183043.3",
"protein_id": "NP_898864.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1773,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183043.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "NM_183044.3",
"protein_id": "NP_898865.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183044.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000902197.1",
"protein_id": "ENSP00000572256.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902197.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000902198.1",
"protein_id": "ENSP00000572257.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902198.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000902201.1",
"protein_id": "ENSP00000572260.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902201.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000902204.1",
"protein_id": "ENSP00000572263.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902204.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000902205.1",
"protein_id": "ENSP00000572264.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902205.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000902206.1",
"protein_id": "ENSP00000572265.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902206.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000911857.1",
"protein_id": "ENSP00000581916.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1391,
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"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911857.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000911859.1",
"protein_id": "ENSP00000581918.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911859.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000945715.1",
"protein_id": "ENSP00000615774.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945715.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000945716.1",
"protein_id": "ENSP00000615775.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945716.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000945717.1",
"protein_id": "ENSP00000615776.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
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"cdna_start": 1648,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945717.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000945718.1",
"protein_id": "ENSP00000615777.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 685,
"cds_start": 1139,
"cds_end": null,
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"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945718.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly",
"transcript": "ENST00000945721.1",
"protein_id": "ENSP00000615780.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
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"cds_start": 1139,
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"cdna_start": 1486,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945721.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Glu379Gly",
"transcript": "ENST00000902199.1",
"protein_id": "ENSP00000572258.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 684,
"cds_start": 1136,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902199.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Glu379Gly",
"transcript": "ENST00000902203.1",
"protein_id": "ENSP00000572262.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 684,
"cds_start": 1136,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1263,
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"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.1706,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.657,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005977.4",
"gene_symbol": "RNF6",
"hgnc_id": 10069,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Glu380Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}