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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: 11-68936571-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68936571&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "IGHMBP2",
"hgnc_id": 5542,
"hgvs_c": "c.2091G>A",
"hgvs_p": "p.Pro697Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_002180.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 697,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Autosomal recessive distal spinal muscular atrophy 1,Charcot-Marie-Tooth disease axonal type 2S,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 993,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3914,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_002180.3",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.2091G>A",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000255078.8",
"protein_coding": true,
"protein_id": "NP_002171.2",
"strand": true,
"transcript": "NM_002180.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 993,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3914,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000255078.8",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.2091G>A",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002180.3",
"protein_coding": true,
"protein_id": "ENSP00000255078.4",
"strand": true,
"transcript": "ENST00000255078.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 932,
"aa_ref": "P",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3715,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1908,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925063.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.1908G>A",
"hgvs_p": "p.Pro636Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595122.1",
"strand": true,
"transcript": "ENST00000925063.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 875,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000675615.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.2091G>A",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502413.1",
"strand": true,
"transcript": "ENST00000675615.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 308,
"aa_ref": "P",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 929,
"cdna_start": 335,
"cds_end": null,
"cds_length": 927,
"cds_start": 333,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000674675.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Pro111Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502787.1",
"strand": true,
"transcript": "ENST00000674675.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 956,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 2153,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047426881.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.2091G>A",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282837.1",
"strand": true,
"transcript": "XM_047426881.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 656,
"aa_ref": "P",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017017670.3",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.1080G>A",
"hgvs_p": "p.Pro360Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873159.1",
"strand": true,
"transcript": "XM_017017670.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 617,
"aa_ref": "P",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 2109,
"cds_end": null,
"cds_length": 1854,
"cds_start": 963,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005273975.4",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Pro321Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274032.1",
"strand": true,
"transcript": "XM_005273975.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 582,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5323,
"cdna_start": 3562,
"cds_end": null,
"cds_length": 1749,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011544994.2",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "c.858G>A",
"hgvs_p": "p.Pro286Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543296.1",
"strand": true,
"transcript": "XM_011544994.2",
"transcript_support_level": null
},
{
"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": 2346,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000539064.5",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.1850G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000539064.5",
"transcript_support_level": 2
},
{
"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": 2846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000543739.5",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.1084G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000543739.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000674878.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.333G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501899.1",
"strand": true,
"transcript": "ENST00000674878.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000674955.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.*808G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502463.1",
"strand": true,
"transcript": "ENST00000674955.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675118.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.*1317G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501570.1",
"strand": true,
"transcript": "ENST00000675118.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 886,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675389.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.366G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675389.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675648.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.1466G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000675916.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.333G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501575.1",
"strand": true,
"transcript": "ENST00000675916.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676173.2",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.*2532G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000520445.1",
"strand": true,
"transcript": "ENST00000676173.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000676182.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.*418G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501625.1",
"strand": true,
"transcript": "ENST00000676182.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676228.1",
"gene_hgnc_id": 5542,
"gene_symbol": "IGHMBP2",
"hgvs_c": "n.*1414G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502375.1",
"strand": true,
"transcript": "ENST00000676228.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000674955.1",
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}