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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: 16-31191410-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31191410&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FUS",
"hgnc_id": 4010,
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Lys",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_004960.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8502,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"chr": "16",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 4, hereditary essential,Amyotrophic lateral sclerosis type 6,Tremor",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7246688604354858,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 526,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1553,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004960.4",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Lys",
"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": "K",
"aa_end": null,
"aa_length": 526,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1824,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1553,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000254108.12",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Lys",
"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": "K",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7179,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1550,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000380244.8",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517Lys",
"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": 14,
"exon_rank_end": null,
"feature": "ENST00000566605.5",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "n.*726G>A",
"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": 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": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000566605.5",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "n.*726G>A",
"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": "K",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000925805.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Arg525Lys",
"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": "K",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000948616.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Arg524Lys",
"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": "K",
"aa_end": null,
"aa_length": 527,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000568685.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Arg519Lys",
"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": "K",
"aa_end": null,
"aa_length": 526,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1553,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000875021.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1553G>A",
"hgvs_p": "p.Arg518Lys",
"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": "K",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1550,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001170634.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1550G>A",
"hgvs_p": "p.Arg517Lys",
"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": "K",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1547,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000715542.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Arg516Lys",
"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": "K",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1547,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000875027.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Arg516Lys",
"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": "K",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1547,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000948617.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Arg516Lys",
"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": "K",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000875023.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515Lys",
"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": "K",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000875028.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515Lys",
"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": "K",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000925796.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515Lys",
"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": "K",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000948618.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515Lys",
"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": "K",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5107,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1541,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001170937.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1541G>A",
"hgvs_p": "p.Arg514Lys",
"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": "K",
"aa_end": null,
"aa_length": 520,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000875024.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Lys",
"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": "K",
"aa_end": null,
"aa_length": 520,
"aa_ref": "R",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000875033.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
"hgvs_c": "c.1535G>A",
"hgvs_p": "p.Arg512Lys",
"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": "K",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000875030.1",
"gene_hgnc_id": 4010,
"gene_symbol": "FUS",
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}