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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: 21-44903411-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44903411&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44903411,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000652462.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "NM_000211.5",
"protein_id": "NP_000202.3",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 769,
"cds_start": 453,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": "ENST00000652462.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "ENST00000652462.1",
"protein_id": "ENSP00000498780.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 769,
"cds_start": 453,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": "NM_000211.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "ENST00000302347.10",
"protein_id": "ENSP00000303242.6",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 793,
"cds_start": 453,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "ENST00000397852.5",
"protein_id": "ENSP00000380950.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 769,
"cds_start": 453,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 497,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.596C>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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.329-1678C>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": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "NM_001127491.3",
"protein_id": "NP_001120963.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 769,
"cds_start": 453,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "ENST00000355153.8",
"protein_id": "ENSP00000347279.4",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 769,
"cds_start": 453,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "ENST00000397850.6",
"protein_id": "ENSP00000380948.2",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 769,
"cds_start": 453,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "ENST00000397857.5",
"protein_id": "ENSP00000380955.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 769,
"cds_start": 453,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Gly82Gly",
"transcript": "NM_001303238.2",
"protein_id": "NP_001290167.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 700,
"cds_start": 246,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Gly142Gly",
"transcript": "ENST00000320216.10",
"protein_id": "ENSP00000317697.6",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 321,
"cds_start": 426,
"cds_end": null,
"cds_length": 966,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "ENST00000523663.5",
"protein_id": "ENSP00000428503.1",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 165,
"cds_start": 453,
"cds_end": null,
"cds_length": 499,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly",
"transcript": "ENST00000522931.5",
"protein_id": "ENSP00000428979.1",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 159,
"cds_start": 453,
"cds_end": null,
"cds_length": 480,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Gly82Gly",
"transcript": "XM_006724001.3",
"protein_id": "XP_006724064.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 700,
"cds_start": 246,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Gly82Gly",
"transcript": "XM_047440763.1",
"protein_id": "XP_047296719.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 700,
"cds_start": 246,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 2895,
"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.237C>T",
"hgvs_p": null,
"transcript": "ENST00000521987.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 563,
"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": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.*280C>T",
"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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.*280C>T",
"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": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.*92C>T",
"hgvs_p": null,
"transcript": "ENST00000517563.5",
"protein_id": "ENSP00000428413.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "c.*97C>T",
"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,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"hgvs_c": "n.*280C>T",
"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
}
],
"gene_symbol": "ITGB2",
"gene_hgnc_id": 6155,
"dbsnp": "rs372501675",
"frequency_reference_population": 0.0001734831,
"hom_count_reference_population": 0,
"allele_count_reference_population": 280,
"gnomad_exomes_af": 0.000171018,
"gnomad_genomes_af": 0.000197171,
"gnomad_exomes_ac": 250,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.253,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000652462.1",
"gene_symbol": "ITGB2",
"hgnc_id": 6155,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.453C>T",
"hgvs_p": "p.Gly151Gly"
}
],
"clinvar_disease": "Leukocyte adhesion deficiency 1,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Leukocyte adhesion deficiency 1|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}