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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: 9-127690779-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127690779&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "STXBP1",
"hgnc_id": 11444,
"hgvs_c": "c.1707C>T",
"hgvs_p": "p.Ser569Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001032221.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTRH1",
"hgnc_id": 27039,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Gly27Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 0,
"transcript": "ENST00000641641.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MIR3911",
"hgnc_id": 38962,
"hgvs_c": "n.17G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_037473.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000279571",
"hgnc_id": null,
"hgvs_c": "n.62G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000624141.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 52,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.4588,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19959130883216858,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1707,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001032221.6",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1707C>T",
"hgvs_p": "p.Ser569Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373299.5",
"protein_coding": true,
"protein_id": "NP_001027392.1",
"strand": true,
"transcript": "NM_001032221.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1707,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000373299.5",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1707C>T",
"hgvs_p": "p.Ser569Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001032221.6",
"protein_coding": true,
"protein_id": "ENSP00000362396.2",
"strand": true,
"transcript": "ENST00000373299.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 603,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": null,
"cds_end": null,
"cds_length": 1812,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_003165.6",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.*21C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000373302.8",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003156.1",
"strand": true,
"transcript": "NM_003165.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 603,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": null,
"cds_end": null,
"cds_length": 1812,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000373302.8",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.*21C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_003165.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362399.3",
"strand": true,
"transcript": "ENST00000373302.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 599,
"aa_ref": "P",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 1887,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1760,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000713766.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1760C>T",
"hgvs_p": "p.Pro587Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519067.1",
"strand": true,
"transcript": "ENST00000713766.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 534,
"aa_ref": "H",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000713765.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.His518Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519066.1",
"strand": true,
"transcript": "ENST00000713765.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 35,
"aa_ref": "G",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 510,
"cdna_start": 79,
"cds_end": null,
"cds_length": 108,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000641641.1",
"gene_hgnc_id": 27039,
"gene_symbol": "PTRH1",
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Gly27Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492921.1",
"strand": false,
"transcript": "ENST00000641641.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "S",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1734,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000944186.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1734C>T",
"hgvs_p": "p.Ser578Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614245.1",
"strand": true,
"transcript": "ENST00000944186.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 591,
"aa_ref": "S",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1698,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001374306.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1698C>T",
"hgvs_p": "p.Ser566Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361235.1",
"strand": true,
"transcript": "NM_001374306.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 591,
"aa_ref": "S",
"aa_start": 566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1698,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000944185.1",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1698C>T",
"hgvs_p": "p.Ser566Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614244.1",
"strand": true,
"transcript": "ENST00000944185.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001374309.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361238.1",
"strand": true,
"transcript": "NM_001374309.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001374310.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361239.1",
"strand": true,
"transcript": "NM_001374310.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001374311.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361240.1",
"strand": true,
"transcript": "NM_001374311.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3856,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001374312.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361241.1",
"strand": true,
"transcript": "NM_001374312.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000625363.3",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486944.2",
"strand": true,
"transcript": "ENST00000625363.3",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000626333.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486814.2",
"strand": true,
"transcript": "ENST00000626333.2",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3840,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000626539.3",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487211.2",
"strand": true,
"transcript": "ENST00000626539.3",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3752,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000627871.3",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485895.2",
"strand": true,
"transcript": "ENST00000627871.3",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "S",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000637173.2",
"gene_hgnc_id": 11444,
"gene_symbol": "STXBP1",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ser555Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490519.1",
"strand": true,
"transcript": "ENST00000637173.2",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
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