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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: 3-66380403-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=66380403&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 66380403,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015541.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3142G>C",
"hgvs_p": "p.Glu1048Gln",
"transcript": "NM_015541.3",
"protein_id": "NP_056356.2",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "ENST00000273261.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015541.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3142G>C",
"hgvs_p": "p.Glu1048Gln",
"transcript": "ENST00000273261.8",
"protein_id": "ENSP00000273261.3",
"transcript_support_level": 1,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1093,
"cds_start": 3142,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": "NM_015541.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273261.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3073G>C",
"hgvs_p": "p.Glu1025Gln",
"transcript": "ENST00000383703.3",
"protein_id": "ENSP00000373208.3",
"transcript_support_level": 1,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1070,
"cds_start": 3073,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 5283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383703.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.*997C>G",
"hgvs_p": null,
"transcript": "ENST00000464350.6",
"protein_id": "ENSP00000432574.2",
"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": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464350.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.*997C>G",
"hgvs_p": null,
"transcript": "ENST00000464350.6",
"protein_id": "ENSP00000432574.2",
"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": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464350.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3217G>C",
"hgvs_p": "p.Glu1073Gln",
"transcript": "ENST00000895940.1",
"protein_id": "ENSP00000565999.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1118,
"cds_start": 3217,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 3817,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895940.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3205G>C",
"hgvs_p": "p.Glu1069Gln",
"transcript": "ENST00000930929.1",
"protein_id": "ENSP00000600988.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3907,
"cdna_end": null,
"cdna_length": 5513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930929.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3076G>C",
"hgvs_p": "p.Glu1026Gln",
"transcript": "ENST00000895945.1",
"protein_id": "ENSP00000566004.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3076,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895945.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Glu1024Gln",
"transcript": "ENST00000895935.1",
"protein_id": "ENSP00000565994.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3070,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3685,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895935.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3070G>C",
"hgvs_p": "p.Glu1024Gln",
"transcript": "ENST00000895937.1",
"protein_id": "ENSP00000565996.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3070,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3678,
"cdna_end": null,
"cdna_length": 5284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895937.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3067G>C",
"hgvs_p": "p.Glu1023Gln",
"transcript": "NM_001377344.1",
"protein_id": "NP_001364273.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3682,
"cdna_end": null,
"cdna_length": 5288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377344.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3067G>C",
"hgvs_p": "p.Glu1023Gln",
"transcript": "ENST00000895934.1",
"protein_id": "ENSP00000565993.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3682,
"cdna_end": null,
"cdna_length": 5288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895934.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3061G>C",
"hgvs_p": "p.Glu1021Gln",
"transcript": "ENST00000895938.1",
"protein_id": "ENSP00000565997.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3061,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895938.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3061G>C",
"hgvs_p": "p.Glu1021Gln",
"transcript": "ENST00000895943.1",
"protein_id": "ENSP00000566002.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3061,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3661,
"cdna_end": null,
"cdna_length": 5267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895943.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3004G>C",
"hgvs_p": "p.Glu1002Gln",
"transcript": "ENST00000895936.1",
"protein_id": "ENSP00000565995.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3619,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895936.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.3001G>C",
"hgvs_p": "p.Glu1001Gln",
"transcript": "ENST00000895941.1",
"protein_id": "ENSP00000566000.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1046,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 3601,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895941.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2998G>C",
"hgvs_p": "p.Glu1000Gln",
"transcript": "ENST00000895933.1",
"protein_id": "ENSP00000565992.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 3613,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895933.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2998G>C",
"hgvs_p": "p.Glu1000Gln",
"transcript": "ENST00000895946.1",
"protein_id": "ENSP00000566005.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 3588,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895946.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2995G>C",
"hgvs_p": "p.Glu999Gln",
"transcript": "ENST00000895939.1",
"protein_id": "ENSP00000565998.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 3599,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895939.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2995G>C",
"hgvs_p": "p.Glu999Gln",
"transcript": "ENST00000930939.1",
"protein_id": "ENSP00000600998.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 3610,
"cdna_end": null,
"cdna_length": 5213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930939.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2929G>C",
"hgvs_p": "p.Glu977Gln",
"transcript": "ENST00000930932.1",
"protein_id": "ENSP00000600991.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 3544,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930932.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRIG1",
"gene_hgnc_id": 17360,
"hgvs_c": "c.2926G>C",
"hgvs_p": "p.Glu976Gln",
"transcript": "ENST00000930936.1",
"protein_id": "ENSP00000600995.1",
"transcript_support_level": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "LRIG1",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}