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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: 16-31185081-T-TGGCGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31185081&ref=T&alt=TGGCGGC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP3",
"BP6"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "FUS",
"hgnc_id": 4010,
"hgvs_c": "c.681_686dupCGGCGG",
"hgvs_p": "p.Gly228_Gly229dup",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_004960.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BP6",
"acmg_score": -2,
"allele_count_reference_population": 108,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGGCGGC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " 4, hereditary essential,Amyotrophic lateral sclerosis type 6,FUS-related disorder,Inborn genetic diseases,Tremor",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 526,
"aa_ref": "G",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1581,
"cds_start": 687,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_004960.4",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.681_686dupCGGCGG",
"hgvs_p": "p.Gly228_Gly229dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000254108.12",
"protein_coding": true,
"protein_id": "NP_004951.1",
"strand": true,
"transcript": "NM_004960.4",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 526,
"aa_ref": "G",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1581,
"cds_start": 687,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000254108.12",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.681_686dupCGGCGG",
"hgvs_p": "p.Gly228_Gly229dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004960.4",
"protein_coding": true,
"protein_id": "ENSP00000254108.8",
"strand": true,
"transcript": "ENST00000254108.12",
"transcript_support_level": 1
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7179,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1578,
"cds_start": 684,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000380244.8",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.678_683dupCGGCGG",
"hgvs_p": "p.Gly227_Gly228dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369594.3",
"strand": true,
"transcript": "ENST00000380244.8",
"transcript_support_level": 1
},
{
"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": 1787,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000566605.5",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "n.681_686dupCGGCGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455073.1",
"strand": true,
"transcript": "ENST00000566605.5",
"transcript_support_level": 1
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 533,
"aa_ref": "G",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1602,
"cds_start": 687,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925805.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.681_686dupCGGCGG",
"hgvs_p": "p.Gly228_Gly229dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595863.1",
"strand": true,
"transcript": "ENST00000925805.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 532,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1599,
"cds_start": 684,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948616.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.678_683dupCGGCGG",
"hgvs_p": "p.Gly227_Gly228dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618675.1",
"strand": true,
"transcript": "ENST00000948616.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 527,
"aa_ref": "G",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1584,
"cds_start": 687,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000568685.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.681_686dupCGGCGG",
"hgvs_p": "p.Gly228_Gly229dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455282.1",
"strand": true,
"transcript": "ENST00000568685.1",
"transcript_support_level": 5
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 526,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1581,
"cds_start": 684,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875021.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.678_683dupCGGCGG",
"hgvs_p": "p.Gly227_Gly228dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545080.1",
"strand": true,
"transcript": "ENST00000875021.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 525,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 789,
"cds_end": null,
"cds_length": 1578,
"cds_start": 684,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001170634.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.678_683dupCGGCGG",
"hgvs_p": "p.Gly227_Gly228dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164105.1",
"strand": true,
"transcript": "NM_001170634.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 524,
"aa_ref": "G",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1575,
"cds_start": 681,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000715542.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.675_680dupCGGCGG",
"hgvs_p": "p.Gly226_Gly227dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520462.1",
"strand": true,
"transcript": "ENST00000715542.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 524,
"aa_ref": "G",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1575,
"cds_start": 687,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875027.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.681_686dupCGGCGG",
"hgvs_p": "p.Gly228_Gly229dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545086.1",
"strand": true,
"transcript": "ENST00000875027.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 524,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1575,
"cds_start": 684,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948617.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.678_683dupCGGCGG",
"hgvs_p": "p.Gly227_Gly228dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618676.1",
"strand": true,
"transcript": "ENST00000948617.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1572,
"cds_start": 678,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875023.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.672_677dupCGGCGG",
"hgvs_p": "p.Gly225_Gly226dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545082.1",
"strand": true,
"transcript": "ENST00000875023.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1572,
"cds_start": 687,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875028.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.681_686dupCGGCGG",
"hgvs_p": "p.Gly228_Gly229dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545087.1",
"strand": true,
"transcript": "ENST00000875028.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1572,
"cds_start": 684,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925796.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.678_683dupCGGCGG",
"hgvs_p": "p.Gly227_Gly228dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595855.1",
"strand": true,
"transcript": "ENST00000925796.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1572,
"cds_start": 678,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948618.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.672_677dupCGGCGG",
"hgvs_p": "p.Gly225_Gly226dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618677.1",
"strand": true,
"transcript": "ENST00000948618.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 522,
"aa_ref": "G",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5107,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1569,
"cds_start": 675,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001170937.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.669_674dupCGGCGG",
"hgvs_p": "p.Gly224_Gly225dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164408.1",
"strand": true,
"transcript": "NM_001170937.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 520,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1563,
"cds_start": 684,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875024.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.678_683dupCGGCGG",
"hgvs_p": "p.Gly227_Gly228dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545083.1",
"strand": true,
"transcript": "ENST00000875024.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 520,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1563,
"cds_start": 669,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875033.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.663_668dupCGGCGG",
"hgvs_p": "p.Gly222_Gly223dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545092.1",
"strand": true,
"transcript": "ENST00000875033.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
"aa_end": null,
"aa_length": 515,
"aa_ref": "G",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1548,
"cds_start": 687,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875030.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.681_686dupCGGCGG",
"hgvs_p": "p.Gly228_Gly229dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545089.1",
"strand": true,
"transcript": "ENST00000875030.1",
"transcript_support_level": null
},
{
"aa_alt": "GGG",
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