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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: 21-44907014-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44907014&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ITGB2",
"hgnc_id": 6155,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000211.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 975,
"alphamissense_prediction": null,
"alphamissense_score": 0.1005,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "21",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Leukocyte adhesion deficiency 1,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012335121631622314,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 311,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000211.5",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652462.1",
"protein_coding": true,
"protein_id": "NP_000202.3",
"strand": false,
"transcript": "NM_000211.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 311,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652462.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000211.5",
"protein_coding": true,
"protein_id": "ENSP00000498780.1",
"strand": false,
"transcript": "ENST00000652462.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 793,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 311,
"cds_end": null,
"cds_length": 2382,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000302347.10",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000303242.6",
"strand": false,
"transcript": "ENST00000302347.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 273,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000397852.5",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380950.1",
"strand": false,
"transcript": "ENST00000397852.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 712,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 267,
"cds_end": null,
"cds_length": 2139,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000397854.7",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380952.3",
"strand": false,
"transcript": "ENST00000397854.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000498666.5",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "n.372G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000498666.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 394,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001127491.3",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120963.2",
"strand": false,
"transcript": "NM_001127491.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2913,
"cdna_start": 417,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000355153.8",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347279.4",
"strand": false,
"transcript": "ENST00000355153.8",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 682,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000397850.6",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380948.2",
"strand": false,
"transcript": "ENST00000397850.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 317,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000397857.5",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380955.1",
"strand": false,
"transcript": "ENST00000397857.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 498,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909411.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579470.1",
"strand": false,
"transcript": "ENST00000909411.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 654,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909413.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579472.1",
"strand": false,
"transcript": "ENST00000909413.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 343,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909414.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579473.1",
"strand": false,
"transcript": "ENST00000909414.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 280,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909415.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579474.1",
"strand": false,
"transcript": "ENST00000909415.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 791,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909416.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579475.1",
"strand": false,
"transcript": "ENST00000909416.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": 402,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909417.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579476.1",
"strand": false,
"transcript": "ENST00000909417.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 253,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909418.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579477.1",
"strand": false,
"transcript": "ENST00000909418.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": 280,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909419.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579478.1",
"strand": false,
"transcript": "ENST00000909419.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 444,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909420.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579479.1",
"strand": false,
"transcript": "ENST00000909420.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 366,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909421.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Asp77Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579480.1",
"strand": false,
"transcript": "ENST00000909421.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 349,
"cds_end": null,
"cds_length": 2310,
"cds_start": 229,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961802.1",
"gene_hgnc_id": 6155,
"gene_symbol": "ITGB2",
"hgvs_c": "c.229G>A",
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