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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: 6-137198101-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137198101&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137198101,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000416.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1400T>C",
"hgvs_p": "p.Leu467Pro",
"transcript": "NM_000416.3",
"protein_id": "NP_000407.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 489,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367739.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000416.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1400T>C",
"hgvs_p": "p.Leu467Pro",
"transcript": "ENST00000367739.9",
"protein_id": "ENSP00000356713.5",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 489,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000416.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367739.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1394T>C",
"hgvs_p": "p.Leu465Pro",
"transcript": "ENST00000957752.1",
"protein_id": "ENSP00000627811.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 487,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957752.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "NM_001363526.1",
"protein_id": "NP_001350455.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 479,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363526.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "ENST00000414770.6",
"protein_id": "ENSP00000394230.2",
"transcript_support_level": 3,
"aa_start": 457,
"aa_end": null,
"aa_length": 479,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414770.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "ENST00000646036.1",
"protein_id": "ENSP00000496387.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 479,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646036.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "ENST00000646898.1",
"protein_id": "ENSP00000494069.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 479,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646898.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1343T>C",
"hgvs_p": "p.Leu448Pro",
"transcript": "ENST00000642390.1",
"protein_id": "ENSP00000496468.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 470,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642390.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1343T>C",
"hgvs_p": "p.Leu448Pro",
"transcript": "ENST00000645045.1",
"protein_id": "ENSP00000494493.2",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 470,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645045.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1325T>C",
"hgvs_p": "p.Leu442Pro",
"transcript": "ENST00000911309.1",
"protein_id": "ENSP00000581368.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 464,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911309.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1325T>C",
"hgvs_p": "p.Leu442Pro",
"transcript": "ENST00000957754.1",
"protein_id": "ENSP00000627813.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 464,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957754.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Leu436Pro",
"transcript": "ENST00000957753.1",
"protein_id": "ENSP00000627812.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 458,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957753.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Leu433Pro",
"transcript": "ENST00000458076.6",
"protein_id": "ENSP00000389249.2",
"transcript_support_level": 3,
"aa_start": 433,
"aa_end": null,
"aa_length": 455,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458076.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1277T>C",
"hgvs_p": "p.Leu426Pro",
"transcript": "NM_001363527.1",
"protein_id": "NP_001350456.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 448,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363527.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1277T>C",
"hgvs_p": "p.Leu426Pro",
"transcript": "ENST00000644894.1",
"protein_id": "ENSP00000495272.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 448,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644894.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1277T>C",
"hgvs_p": "p.Leu426Pro",
"transcript": "ENST00000645753.1",
"protein_id": "ENSP00000495103.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 448,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645753.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1277T>C",
"hgvs_p": "p.Leu426Pro",
"transcript": "ENST00000647124.1",
"protein_id": "ENSP00000496549.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 448,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647124.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1277T>C",
"hgvs_p": "p.Leu426Pro",
"transcript": "ENST00000696693.1",
"protein_id": "ENSP00000512814.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 448,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696693.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1238T>C",
"hgvs_p": "p.Leu413Pro",
"transcript": "ENST00000696695.1",
"protein_id": "ENSP00000512816.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 435,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696695.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "XM_006715470.4",
"protein_id": "XP_006715533.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 479,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715470.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "XM_011535793.3",
"protein_id": "XP_011534095.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 479,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535793.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.1370T>C",
"hgvs_p": "p.Leu457Pro",
"transcript": "XM_011535794.2",
"protein_id": "XP_011534096.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 479,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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{
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"BA1"
],
"verdict": "Benign",
"transcript": "NM_000416.3",
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],
"clinvar_disease": "Disseminated atypical mycobacterial infection,Immunodeficiency 27A",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Immunodeficiency 27A|Disseminated atypical mycobacterial infection",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}