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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: 21-33241950-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33241950&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33241950,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001414505.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_001289125.3",
"protein_id": "NP_001276054.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 515,
"cds_start": 28,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": "ENST00000342136.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289125.3"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000342136.9",
"protein_id": "ENSP00000343957.5",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 515,
"cds_start": 28,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": "NM_001289125.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342136.9"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000433395.7",
"protein_id": "ENSP00000388223.3",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 545,
"cds_start": 28,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433395.7"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000382264.7",
"protein_id": "ENSP00000371699.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 331,
"cds_start": 28,
"cds_end": null,
"cds_length": 996,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382264.7"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000404220.7",
"protein_id": "ENSP00000384309.2",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 331,
"cds_start": 28,
"cds_end": null,
"cds_length": 996,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404220.7"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000342101.7",
"protein_id": "ENSP00000343289.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 239,
"cds_start": 28,
"cds_end": null,
"cds_length": 720,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342101.7"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2-IL10RB",
"gene_hgnc_id": null,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_001414505.1",
"protein_id": "NP_001401434.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 545,
"cds_start": 28,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414505.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_207585.3",
"protein_id": "NP_997468.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 515,
"cds_start": 28,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207585.3"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000683941.1",
"protein_id": "ENSP00000508013.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 515,
"cds_start": 28,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683941.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000869362.1",
"protein_id": "ENSP00000539421.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 515,
"cds_start": 28,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869362.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000869365.1",
"protein_id": "ENSP00000539424.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 515,
"cds_start": 28,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869365.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000954794.1",
"protein_id": "ENSP00000624853.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 515,
"cds_start": 28,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954794.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000869363.1",
"protein_id": "ENSP00000539422.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 512,
"cds_start": 28,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869363.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "ENST00000869364.1",
"protein_id": "ENSP00000539423.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 465,
"cds_start": 28,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869364.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_001385055.1",
"protein_id": "NP_001371984.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 451,
"cds_start": 28,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385055.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_000874.5",
"protein_id": "NP_000865.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 331,
"cds_start": 28,
"cds_end": null,
"cds_length": 996,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000874.5"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_207584.3",
"protein_id": "NP_997467.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 331,
"cds_start": 28,
"cds_end": null,
"cds_length": 996,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207584.3"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_001385054.1",
"protein_id": "NP_001371983.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 241,
"cds_start": 28,
"cds_end": null,
"cds_length": 726,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385054.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_001289126.2",
"protein_id": "NP_001276055.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 239,
"cds_start": 28,
"cds_end": null,
"cds_length": 720,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289126.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.28T>A",
"hgvs_p": "p.Phe10Ile",
"transcript": "NM_001289128.2",
"protein_id": "NP_001276057.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 239,
"cds_start": 28,
"cds_end": null,
"cds_length": 720,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289128.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.100T>A",
"hgvs_p": "p.Phe34Ile",
"transcript": "ENST00000447980.1",
"protein_id": "ENSP00000402311.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 203,
"cds_start": 100,
"cds_end": null,
"cds_length": 612,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNAR2",
"gene_hgnc_id": 5433,
"hgvs_c": "c.-119-3001T>A",
"hgvs_p": null,
"transcript": "ENST00000443073.5",
"protein_id": "ENSP00000403569.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 841,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001414505.1",
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"effects": [
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{
"score": -4,
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],
"verdict": "Likely_benign",
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],
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],
"clinvar_disease": "Associated with severe COVID-19 disease",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Associated with severe COVID-19 disease",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}