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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: 21-44910314-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44910314&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44910314,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000652462.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "NM_000211.5",
"protein_id": "NP_000202.3",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 769,
"cds_start": 117,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": "ENST00000652462.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000652462.1",
"protein_id": "ENSP00000498780.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 769,
"cds_start": 117,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": "NM_000211.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000302347.10",
"protein_id": "ENSP00000303242.6",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 793,
"cds_start": 117,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000397852.5",
"protein_id": "ENSP00000380950.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 769,
"cds_start": 117,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000397854.7",
"protein_id": "ENSP00000380952.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 712,
"cds_start": 117,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 2592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.260G>A",
"hgvs_p": null,
"transcript": "ENST00000498666.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "NM_001127491.3",
"protein_id": "NP_001120963.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 769,
"cds_start": 117,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000355153.8",
"protein_id": "ENSP00000347279.4",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 769,
"cds_start": 117,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000397850.6",
"protein_id": "ENSP00000380948.2",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 769,
"cds_start": 117,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000397857.5",
"protein_id": "ENSP00000380955.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 769,
"cds_start": 117,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.90G>A",
"hgvs_p": "p.Ser30Ser",
"transcript": "ENST00000320216.10",
"protein_id": "ENSP00000317697.6",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 321,
"cds_start": 90,
"cds_end": null,
"cds_length": 966,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000523663.5",
"protein_id": "ENSP00000428503.1",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 165,
"cds_start": 117,
"cds_end": null,
"cds_length": 499,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000522931.5",
"protein_id": "ENSP00000428979.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 159,
"cds_start": 117,
"cds_end": null,
"cds_length": 480,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000517563.5",
"protein_id": "ENSP00000428413.1",
"transcript_support_level": 4,
"aa_start": 39,
"aa_end": null,
"aa_length": 119,
"cds_start": 117,
"cds_end": null,
"cds_length": 361,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000397846.7",
"protein_id": "ENSP00000380944.3",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 108,
"cds_start": 117,
"cds_end": null,
"cds_length": 327,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000517819.5",
"protein_id": "ENSP00000428870.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 69,
"cds_start": 117,
"cds_end": null,
"cds_length": 211,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser",
"transcript": "ENST00000521995.1",
"protein_id": "ENSP00000429683.1",
"transcript_support_level": 4,
"aa_start": 39,
"aa_end": null,
"aa_length": 48,
"cds_start": 117,
"cds_end": null,
"cds_length": 147,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.201G>A",
"hgvs_p": null,
"transcript": "ENST00000479849.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.117G>A",
"hgvs_p": null,
"transcript": "ENST00000520389.5",
"protein_id": "ENSP00000428434.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.375G>A",
"hgvs_p": null,
"transcript": "ENST00000523126.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.160G>A",
"hgvs_p": null,
"transcript": "ENST00000523323.5",
"protein_id": "ENSP00000427732.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.-91G>A",
"hgvs_p": null,
"transcript": "NM_001303238.2",
"protein_id": "NP_001290167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": -4,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.-91G>A",
"hgvs_p": null,
"transcript": "ENST00000522688.5",
"protein_id": "ENSP00000428125.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 48,
"cds_start": -4,
"cds_end": null,
"cds_length": 149,
"cdna_start": null,
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}
],
"gene_symbol": "ITGB2",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": 0.3492,
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"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.098,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000652462.1",
"gene_symbol": "ITGB2",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.117G>A",
"hgvs_p": "p.Ser39Ser"
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{
"score": -18,
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"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_001755083.2",
"gene_symbol": "LOC107987303",
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"effects": [
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],
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}
],
"clinvar_disease": "Leukocyte adhesion deficiency 1,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Leukocyte adhesion deficiency 1|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}