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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: 7-873321-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=873321&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SUN1",
"hgnc_id": 18587,
"hgvs_c": "c.2762C>A",
"hgvs_p": "p.Pro921His",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001367651.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.4353,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Emery-Dreifuss muscular dystrophy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7431778311729431,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 785,
"aa_ref": "P",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2358,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001130965.3",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2348C>A",
"hgvs_p": "p.Pro783His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000401592.6",
"protein_coding": true,
"protein_id": "NP_001124437.1",
"strand": true,
"transcript": "NM_001130965.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 785,
"aa_ref": "P",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2358,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000401592.6",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2348C>A",
"hgvs_p": "p.Pro783His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130965.3",
"protein_coding": true,
"protein_id": "ENSP00000384015.1",
"strand": true,
"transcript": "ENST00000401592.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 2133,
"cds_start": 2123,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000429178.5",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2123C>A",
"hgvs_p": "p.Pro708His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409909.1",
"strand": true,
"transcript": "ENST00000429178.5",
"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": 4038,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000475971.5",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "n.2457C>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": "ENST00000475971.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "P",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4637,
"cdna_start": 3058,
"cds_end": null,
"cds_length": 3015,
"cds_start": 3005,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000963118.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.3005C>A",
"hgvs_p": "p.Pro1002His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633177.1",
"strand": true,
"transcript": "ENST00000963118.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 993,
"aa_ref": "P",
"aa_start": 991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4613,
"cdna_start": 3032,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2972,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000963093.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2972C>A",
"hgvs_p": "p.Pro991His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633151.1",
"strand": true,
"transcript": "ENST00000963093.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 992,
"aa_ref": "P",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4607,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2969,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000963103.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2969C>A",
"hgvs_p": "p.Pro990His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633162.1",
"strand": true,
"transcript": "ENST00000963103.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 977,
"aa_ref": "P",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4548,
"cdna_start": 2974,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2924,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963140.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2924C>A",
"hgvs_p": "p.Pro975His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633199.1",
"strand": true,
"transcript": "ENST00000963140.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 976,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 2968,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2921,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963135.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2921C>A",
"hgvs_p": "p.Pro974His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633194.1",
"strand": true,
"transcript": "ENST00000963135.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 968,
"aa_ref": "P",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 2971,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2897,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963074.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2897C>A",
"hgvs_p": "p.Pro966His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633133.1",
"strand": true,
"transcript": "ENST00000963074.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 967,
"aa_ref": "P",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4542,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2894,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963082.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2894C>A",
"hgvs_p": "p.Pro965His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633141.1",
"strand": true,
"transcript": "ENST00000963082.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 965,
"aa_ref": "P",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 2937,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2888,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963107.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2888C>A",
"hgvs_p": "p.Pro963His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633166.1",
"strand": true,
"transcript": "ENST00000963107.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 956,
"aa_ref": "P",
"aa_start": 954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 2927,
"cds_end": null,
"cds_length": 2871,
"cds_start": 2861,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963079.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2861C>A",
"hgvs_p": "p.Pro954His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633138.1",
"strand": true,
"transcript": "ENST00000963079.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 955,
"aa_ref": "P",
"aa_start": 953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4490,
"cdna_start": 2909,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2858,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000881164.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2858C>A",
"hgvs_p": "p.Pro953His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551223.1",
"strand": true,
"transcript": "ENST00000881164.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 945,
"aa_ref": "P",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4459,
"cdna_start": 2879,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2828,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000881168.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2828C>A",
"hgvs_p": "p.Pro943His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551227.1",
"strand": true,
"transcript": "ENST00000881168.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 936,
"aa_ref": "P",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2801,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000963137.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2801C>A",
"hgvs_p": "p.Pro934His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633196.1",
"strand": true,
"transcript": "ENST00000963137.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 934,
"aa_ref": "P",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 2853,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2795,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000963102.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2795C>A",
"hgvs_p": "p.Pro932His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633161.1",
"strand": true,
"transcript": "ENST00000963102.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 923,
"aa_ref": "P",
"aa_start": 921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4450,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2762,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001367651.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2762C>A",
"hgvs_p": "p.Pro921His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354580.1",
"strand": true,
"transcript": "NM_001367651.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 923,
"aa_ref": "P",
"aa_start": 921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 2812,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2762,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963124.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2762C>A",
"hgvs_p": "p.Pro921His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633183.1",
"strand": true,
"transcript": "ENST00000963124.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 922,
"aa_ref": "P",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 2810,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2759,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000963113.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2759C>A",
"hgvs_p": "p.Pro920His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633172.1",
"strand": true,
"transcript": "ENST00000963113.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 916,
"aa_ref": "P",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2792,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2741,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001367705.1",
"gene_hgnc_id": 18587,
"gene_symbol": "SUN1",
"hgvs_c": "c.2741C>A",
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"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.759,
"pos": 873321,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.28,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001367651.1"
}
]
}