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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: 22-38738918-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38738918&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SUN2",
"hgnc_id": 14210,
"hgvs_c": "c.1827C>T",
"hgvs_p": "p.Gly609Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001394427.1",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000230149",
"hgnc_id": null,
"hgvs_c": "n.455G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000418803.1",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "GTPBP1",
"hgnc_id": 4669,
"hgvs_c": "c.*919G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "XM_011530537.3",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000225450",
"hgnc_id": null,
"hgvs_c": "n.-85G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000416406.1",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP6_Moderate",
"BS2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000244491",
"hgnc_id": null,
"hgvs_c": "n.*153G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000420118.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 584,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "22",
"clinvar_classification": "Benign",
"clinvar_disease": "Emery-Dreifuss muscular dystrophy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 717,
"aa_ref": "G",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1734,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_015374.3",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1734C>T",
"hgvs_p": "p.Gly578Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000689035.1",
"protein_coding": true,
"protein_id": "NP_056189.1",
"strand": false,
"transcript": "NM_015374.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 717,
"aa_ref": "G",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3960,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1734,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000689035.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1734C>T",
"hgvs_p": "p.Gly578Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015374.3",
"protein_coding": true,
"protein_id": "ENSP00000508608.1",
"strand": false,
"transcript": "ENST00000689035.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 738,
"aa_ref": "G",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4022,
"cdna_start": 2071,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1797,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000405018.5",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1797C>T",
"hgvs_p": "p.Gly599Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385616.1",
"strand": false,
"transcript": "ENST00000405018.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 717,
"aa_ref": "G",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4055,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1734,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000405510.5",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1734C>T",
"hgvs_p": "p.Gly578Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385740.1",
"strand": false,
"transcript": "ENST00000405510.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "G",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 2198,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000956730.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Gly610Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626789.1",
"strand": false,
"transcript": "ENST00000956730.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "G",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000956735.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Gly610Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626794.1",
"strand": false,
"transcript": "ENST00000956735.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 749,
"aa_ref": "G",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 2214,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000956751.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1830C>T",
"hgvs_p": "p.Gly610Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626810.1",
"strand": false,
"transcript": "ENST00000956751.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 748,
"aa_ref": "G",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4053,
"cdna_start": 2100,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1827,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001394427.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1827C>T",
"hgvs_p": "p.Gly609Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381356.1",
"strand": false,
"transcript": "NM_001394427.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 748,
"aa_ref": "G",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4079,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1827,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000956736.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1827C>T",
"hgvs_p": "p.Gly609Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626795.1",
"strand": false,
"transcript": "ENST00000956736.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 739,
"aa_ref": "G",
"aa_start": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1800,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000956744.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1800C>T",
"hgvs_p": "p.Gly600Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626803.1",
"strand": false,
"transcript": "ENST00000956744.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 738,
"aa_ref": "G",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1797,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001199579.2",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1797C>T",
"hgvs_p": "p.Gly599Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186508.1",
"strand": false,
"transcript": "NM_001199579.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 738,
"aa_ref": "G",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4088,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1797,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001394428.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1797C>T",
"hgvs_p": "p.Gly599Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381357.1",
"strand": false,
"transcript": "NM_001394428.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 738,
"aa_ref": "G",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4097,
"cdna_start": 2138,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1797,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000956739.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1797C>T",
"hgvs_p": "p.Gly599Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626798.1",
"strand": false,
"transcript": "ENST00000956739.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 737,
"aa_ref": "G",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 2071,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1794,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000870844.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Gly598Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540903.1",
"strand": false,
"transcript": "ENST00000870844.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 737,
"aa_ref": "G",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4072,
"cdna_start": 2117,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1794,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000870850.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Gly598Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540909.1",
"strand": false,
"transcript": "ENST00000870850.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 737,
"aa_ref": "G",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1794,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000956749.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Gly598Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626808.1",
"strand": false,
"transcript": "ENST00000956749.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4070,
"cdna_start": 2117,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1779,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001394429.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Gly593Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381358.1",
"strand": false,
"transcript": "NM_001394429.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4005,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1779,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001394430.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Gly593Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381359.1",
"strand": false,
"transcript": "NM_001394430.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4037,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1779,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000956732.1",
"gene_hgnc_id": 14210,
"gene_symbol": "SUN2",
"hgvs_c": "c.1779C>T",
"hgvs_p": "p.Gly593Gly",
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