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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: 21-44893456-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44893456&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44893456,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000211.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "NM_000211.5",
"protein_id": "NP_000202.3",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": "ENST00000652462.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000211.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000652462.1",
"protein_id": "ENSP00000498780.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": "NM_000211.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652462.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1244C>T",
"hgvs_p": "p.Thr415Met",
"transcript": "ENST00000302347.10",
"protein_id": "ENSP00000303242.6",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 793,
"cds_start": 1244,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302347.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000397852.5",
"protein_id": "ENSP00000380950.1",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397852.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Thr334Met",
"transcript": "ENST00000397854.7",
"protein_id": "ENSP00000380952.3",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 712,
"cds_start": 1001,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397854.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.2741C>T",
"hgvs_p": null,
"transcript": "ENST00000498666.5",
"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": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498666.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "NM_001127491.3",
"protein_id": "NP_001120963.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127491.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000355153.8",
"protein_id": "ENSP00000347279.4",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355153.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000397850.6",
"protein_id": "ENSP00000380948.2",
"transcript_support_level": 5,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397850.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000397857.5",
"protein_id": "ENSP00000380955.1",
"transcript_support_level": 5,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397857.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909411.1",
"protein_id": "ENSP00000579470.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909411.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909413.1",
"protein_id": "ENSP00000579472.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909413.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909414.1",
"protein_id": "ENSP00000579473.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909414.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909415.1",
"protein_id": "ENSP00000579474.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909415.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909416.1",
"protein_id": "ENSP00000579475.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909416.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909417.1",
"protein_id": "ENSP00000579476.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909417.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909418.1",
"protein_id": "ENSP00000579477.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909418.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909419.1",
"protein_id": "ENSP00000579478.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909419.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909420.1",
"protein_id": "ENSP00000579479.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909420.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000909421.1",
"protein_id": "ENSP00000579480.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909421.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000961802.1",
"protein_id": "ENSP00000631861.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
"cds_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961802.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000961803.1",
"protein_id": "ENSP00000631862.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 769,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
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{
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"BS1"
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"verdict": "Benign",
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "Leukocyte adhesion deficiency 1|not provided|ITGB2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}