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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: 21-44910275-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44910275&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44910275,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000652462.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "NM_000211.5",
"protein_id": "NP_000202.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": "ENST00000652462.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000652462.1",
"protein_id": "ENSP00000498780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": "NM_000211.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000302347.10",
"protein_id": "ENSP00000303242.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": -4,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000397852.5",
"protein_id": "ENSP00000380950.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000397854.7",
"protein_id": "ENSP00000380952.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.290+9C>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": -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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "NM_001127491.3",
"protein_id": "NP_001120963.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000355153.8",
"protein_id": "ENSP00000347279.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000397850.6",
"protein_id": "ENSP00000380948.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000397857.5",
"protein_id": "ENSP00000380955.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.-61+9C>T",
"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,
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"cds_length": 2103,
"cdna_start": null,
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"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.120+9C>T",
"hgvs_p": null,
"transcript": "ENST00000320216.10",
"protein_id": "ENSP00000317697.6",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 321,
"cds_start": -4,
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"cds_length": 966,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000523663.5",
"protein_id": "ENSP00000428503.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 165,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000522931.5",
"protein_id": "ENSP00000428979.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "ITGB2",
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"hgvs_c": "c.147+9C>T",
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"transcript": "ENST00000517563.5",
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"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.147+9C>T",
"hgvs_p": null,
"transcript": "ENST00000397846.7",
"protein_id": "ENSP00000380944.3",
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},
{
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],
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"gene_symbol": "ITGB2",
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"hgvs_c": "c.147+9C>T",
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"transcript": "ENST00000517819.5",
"protein_id": "ENSP00000428870.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.-61+9C>T",
"hgvs_p": null,
"transcript": "ENST00000522688.5",
"protein_id": "ENSP00000428125.1",
"transcript_support_level": 4,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.-61+9C>T",
"hgvs_p": null,
"transcript": "ENST00000524251.1",
"protein_id": "ENSP00000430901.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "ITGB2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ITGB2",
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"hgvs_c": "n.147+9C>T",
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"transcript": "ENST00000520389.5",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.113-6740C>T",
"hgvs_p": null,
"transcript": "ENST00000521987.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.405+9C>T",
"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,
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"cdna_start": null,
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"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"gene_symbol": "ITGB2",
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"dbsnp": "rs199948899",
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"hom_count_reference_population": 8,
"allele_count_reference_population": 4480,
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"gnomad_genomes_af": 0.00231147,
"gnomad_exomes_ac": 4128,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.186,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000652462.1",
"gene_symbol": "ITGB2",
"hgnc_id": 6155,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.147+9C>T",
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},
{
"score": -16,
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"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_001755083.2",
"gene_symbol": "LOC107987303",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.-1C>T",
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}
],
"clinvar_disease": "Leukocyte adhesion deficiency 1,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Leukocyte adhesion deficiency 1|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}